Intellectual disability, macrocephaly and seizures caused by de novo variants in PAK1: a case report / 中华实用儿科临床杂志

The clinical data of a child with intellectual disability, macrocephaly and seizures associated with de novo variants in the PAK1 gene who was treated in the Department of Pediatrics, Peking University First Hospital in March 2022 were retrospectively analyzed.Meanwhile, literature review was performed to analyze the pathogenicity and mutation characteristics of the PAK1 gene.A boy with 4 years and 8 months old presented clinical manifestations of intellectual disability dominated by speech impairment and recurrent epilepsy.The patient had special facial features, including large head circumference, long face and low nose beam.Video electroencephalogram showed slow waves in the bilateral anterior head regions, and sharp wave, spike-slow complex waves and sharp-slow complex waves in the left hemisphere.Head magnetic resonance imaging revealed enlargement of the bilateral cerebral gyri, cerebellum and brainstem, thickening of cortex and corpus callosum, and enrichment of white matter.A de novo heterozygous mutation c. 361C>A(p.Pro121Thr ) was found in exon 4 of PAK1 (NM_001128620). This article for the first time reported a case of intellectual disability, macrocephaly and seizures caused by the de novo variants in the PAK1 gene in China.The pathogenic gene in this family was identified, which provided the possibility for accurate genetic counseling.

Mental retardation autosomal dominant 35 caused by de novo missense variants in PPP2R5D gene: a case report and literature review / 中华神经科杂志

Objective:To enhance understanding of mental retardation autosomal dominant 35 (MRD35) by analyzing the clinical and genetic characteristics of the disease.Methods:Clinical and genetic data of 1 case of MRD35 in Beijing Children′s Hospital in July 2018 were reported, and literature review was conducted.Results:The male proband, 1 year and 3 months old, was admitted with the clinical manifestations including mental retardation, low-grade fever, a large forehead, flat nose, open mouth, and hypomyotonia. The brain magnetic resonance imaging showed enlarged lateral ventricles, cavum septum, cavum verge and cavum velum interpositum cyst. The whole exome sequencing test showed that the proband carried a missense mutation c.1258 G>A, (p.E420K) in the PPP2R5D gene, and the mutation was de novo confirmed by Sanger sequencing. There were ten literatures reported, including a total number of 31 cases. Counting on this case, totally 32 cases were included. Among the 32 patients, 32 cases (100.0%) had mental retardation, 26 cases (81.3%) with motor retardation, 26 cases (81.3%) with macrocephaly, 8 cases (25.0%) with epilepsy. Facial dysmorphic features, ocular abnormalities, skeletal abnormalities, and cardiac malformations were also reported. All reported individuals had missense mutations of PPP2R5D gene and were autosomal dominantly inherited. Conclusions:The main clinical manifestations of MRD35 include growth retardation/mental retardation, severe speech impairment, macrocephaly, hypomyotonia, seizures and dysmorphic facial features. A novel missense mutation in the PPP2R5D gene is the cause of MRD35.

Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile

Abstract Introduction: Glutaric Aciduria Type 1 (GA-1) is produced by the enzymatic deficiency of glutaryl-CoA-dehydrogenase (GCDH), leading to the accumulation of glutaric acid (GA). 90% of patients without early treatment present acute encephalopathic crisis (AEC), followed by disabling neurological symptoms. The treatment consists of a low lysine (Lys) diet, protein substitute lys-free, tryptophan-reduced (PS) and L-carnitine. Objectives: Describe the clinical and nutritional evolution of a cohort of GA-1 patients at a national referral center in Chile. Methodology: Retrospective study of 24 patients diagnosed with GA-1 between 1998-2020 and referred to the Institute of Nutrition and Food Technology (INTA) of University of Chile. Results: Age at diagnosis was 19±27 months; 10/24 presented AEC and neurological sequelae. The cases without AEC (14/24) 8 presented neurological compromise: psychomotor development delay, abnormal movements and pyramidal syndrome. Nutritional evaluation: 12/24 were malnourished by deficiency, <6 years old group (12/24): 11 cases were found to have Lys and PS, ≥6 years old (12/24): 9/12 did not receive PS. All had normal free carnitine levels. Conclusion: GA-1 has variable symptoms with neurological involvement AEC or insidious start. Is essential to maintain a long-term follow-up and consider its inclusion in neonatal screening programs.

Van der Knaap disease: a case report

Van der Knaap disease or megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare autosomal recessive degenerative disorder characterized by megalocephaly, cerebral leukoencephalopathy, and motor deterioration. Most cases reported with this disease are from our country India, belong to Agarwal community, who have high rates of consanguinity. We report a 4 and 1/2year old boy, with a history of delayed motor milestones, ataxia, increasing head circumference and abnormal body movements, who is belonging to the Bhat family of Handwara town of Kupwara district of Jammu and Kashmir, India.

A de novo truncating mutation in ASXL1 associated with segmental overgrowth

Mutations in genes involved in chromatin remodelling have been implicated in broad phenotypes of congenital abnormalities and neurodevelopment. However, limited genotype–phenotype correlations are available for some of the rarestgenetic disorders that affect chromatin regulation. We hereby describe a 12-year-old girl presented at birth with severe hypotonia, developmental delay, a mid-line capillary malformation and distinctive craniofacial features. During the natural history of her disease, the girl developed severe spasticity and drug-resistant seizures, leading to a diagnosis of Bohring–Opitz syndrome (BOS). We performed whole-exome sequencing (WES) and identified a de novo mutation in ASXL1 (c.2033dupG) which results in the introduction of a premature stop codon (p.R678fs*6). ASXL1 encodes a polycomb repressive complex protein implicated in chromatin regulation and de novo mutations are a known cause of BOS. Phenotypes with segmental craniofacial overgrowth associated to midline capillary malformations enlarge the clinical spectrum of BOS at onset and further expand the differential diagnosis in ASXL1 mutation carriers.

Incidencia de macrocefalia neonatal en el Hospital Cayetano Heredia, 2016 - 2017 / Incidence of neonatal macrocephaly at the Hospital Cayetano Heredia, 2016 - 2017

Objetivo: Determinar la incidencia de macrocefalia neonatal en un hospital de tercer nivel en Lima, Perú. Material y Métodos: Se definió macrocefalia en función al perímetro cefálico mayor que el percentil 97 para la edad y sexo. La información fue obtenida de los registros del Sistema Informático Perinatal del Hospital Cayetano Heredia durante el periodo 1º de enero, 2016 a 31 de diciembre, 2017. Se usó la Tabla Fenton para determinar los límites de normalidad. Resultados: Se registraron 210 casos de macrocefalia neonatal y una tasa general de 26 por mil nacidos vivos, inversamente proporcional a la edad gestacional. Conclusiones: la macrocefalia es más frecuente en prematuros, con un factor de riesgo cinco veces mayor en este grupo poblacional.

Objective: To determine the incidence of neonatal macrocephaly in a third level hospital from Lima, Perú. Methods: Macrocephaly was defined on the basis of a cephalic perimeter higher than the 97th percentile for age and sex. The report records of the Perinatal Computer System of Cayetano Heredia Hospital between January 1st., 2016 and December 31st, 2017 were used, as well as the Fenton growth chart to determine the limits of normality. Results: A total of 210 cases of neonatal macrocephaly was registered, a general rate of 26 per 1,000 live births. Neonatal macrocephaly incidence were inversely proportional to gestational age. Conclusions: Macrocephaly was higher in preterm neonates, with a risk factor five times higher in this population group.

Las Curvas Para Medir Circunferencia Cefálica Y Las Potenciales Diferencias Antropométricas En Latinoamérica Y El Mundo / Cephalic Circumference Curves And Potential Anthropometric Differences In Latin America And The World

Resumen La circunferencia cefálica (CC) es una medición que detecta alteraciones del crecimiento adecuado del cerebro. Las curvas de CC más utilizadas mundialmente son las propuestas por los CDC, NCHS y OMS. A pesar de las críticas sobre la metodología para crearlas, se han hecho actualizaciones para corregir inconsistencias. Esto ha servido para detectar y tratar oportunamente problemas de tamaño craneal tanto en los extremos pequeños (microcefalia) o grandes (macrocefalia). Algunos autores opinan que existe la necesidad de contar con curvas regionales para mejorar el valor diagnóstico de éstas en cada población. Otros, como Kenton Holden y colaboradores, han propuesto nuevas curvas que consolidan diferentes bases de datos con el objetivo de reducir el riesgo de errores en el diagnóstico de microcefalia o macrocefalia leve. Es necesario estudiar cuál es el patrón de crecimiento craneal normal de niños/as latinoamericanos por cada región o país, así como conocer las diferencias interétnicas.

Abstract The cephalic circumference (CC) is a measurement that detects alterations in the proper growth of the brain. CC curves most used worldwide are those proposed by the CDC, NCHS and WHO. Despite criticism of the methodology used to create them, updates have been made to correct inconsistencies, and that has helped to detect and treat on time problems of cranial size at both the small (microcephaly) and large (macrocephaly) ends. Several authors have suggested that regional reference curves should be made, and others, like Kenton Holden and colleagues, have proposed new curves that consolidate different databases, aiming to reduce the risk of errors in the diagnosis of microcephaly or mild macrocephaly. It is necessary to study what the normal cranial growth pattern of Latin American children is for each region or country, as well as to determine the interethnic differences.

Síndrome de Silver-Russell, un desafío diagnóstico / Silver-russell syndrome, a diagnostic challenge

El síndrome de Silver-Russell es una condición infrecuente que clínicamente se manifiesta por macrocefalia relativa, dismorfias faciales, restricción importante de crecimiento pre-y postnatal y otros hallazgos variables al examen físico. En un 60% de los pacientes el estudio genético actualmente disponible permite establecer el diagnostico, sin embargo prevalecen los criterios clínicos. Se presenta el caso clínico de un paciente evaluado al año de vida con historia de restricción de crecimiento prenatal y con talla baja y desnutrición crónica descompensada, en el cuál se descartaron otras etiologías y se concluye por criterios clínicos de padecer el síndrome, a pesar de un estudio genético negativo. Debido a un amplio espectro de manifestaciones clínicas a veces sutiles y confundentes se debe conocer este síndrome para su diagnóstico oportuno.

Silver-Russell syndrome is an uncommon condition that manifests itself as relative macrocephaly, facial dysmorphia, poor pre-and post-natal growth and other variable physical features. In 60% of patients it is possible to establish the diagnosis through available genetic testing; however, clinical criteria are more important. We present the clinical case of a patient with poor pre-natal growth, small size and chronic malnutrition evaluated at one year old where other etiologies were discounted and the syndrome diagnosed because of the clinical signs, despite genetic tests being negative. With its ample spectrum of sometimes subtle and confusing clinical signs, familiarity with this syndrome is key to reaching an early diagnosis.

Síndrome de Morquio, enfermedad de interés para la odontopediatría: presentación de un caso / Morquio syndrome, a disease of interest for pediatric dentistry: case report

El Síndrome de Morquio es un trastorno de almacenamiento de mucopolisacáridos se caracteriza principalmente por estatura corta y afectación ósea grave, pero el coeficiente intelectual es normal. La prevalencia es rara se estima que afecta a uno de cada 200.000 nacimientos hombres y mujeres por igual. La MPS IV A y B son enfermedades autosómicas recesivas con esto queremos decir que ambos progenitores son portadores del mismo gen afectado el cual se encuentra alterado produciendo así una deficiencia en la producción de la enzima. Las manifestaciones esqueléticas en esta displasia son retardo en el crecimiento, hipoplasia del odontoides, cifosis toracolumbar, displasia de cadera, genu valgo, manchas cutáneas y laxitud articular, en cuando a cuestiones dentales tenemos: el esmalte es delgado, rugoso e hipoplásico afectando dientes deciduos como permanentes. Se presenta el caso de un paciente masculino de 8 años 3/12 presentando MPS el cual requiere un protocolo de rehabilitación lo cual se realiza en el área de odontopedriatría del Hospital del Niño DIF.

Morquio syndrome is a mucopolysaccharide storage disorder is mainly characterized by short stature, severe bone involvement, but IQ is normal. The prevalence is rare is estimated to affect one in every 200,000 births men and women alike. The MPS IV A and B are autosomal recessive diseases with this we mean that both parents are carriers of the same gene affected which is altered thus producing a deficiency in the production of the enzyme. The skeletal manifestations in this dysplasia are growth retardation, hypoplasia of the odontoid, thoracolumbar kyphosis, hip dysplasia, genu valgus, skin blemishes and joint laxity, then dental issues are: the enamel is thin rugged and hypoplastic affecting deciduous theeth as permanent. The case of a male patient presenting eight years 3/12 MPS which requires a rehabilitation protocol which is done in the dental area of Hospital del Niño DIF is presented.

Isolated Nonsyndromic Hemimegalencephaly Presenting at Neonatal Age - A Case Report.

Hemimegalencephaly (HME) is a relatively rare sporadic brain malformation characterized by enlargement of one cerebral hemisphere. It has a variable presentation and may include partial seizures to epileptic encephalopathy, hemiparesis and psychomotor retardation. Epilepsy associated with HME is usually refractory to antiepileptic drugs and requires surgical intervention. Diagnosis of HME may be delayed in the absence of detailed examination and high index of suspicion giving rise to poor quality of life prior to surgery. We report, a case of a male neonate, with radiological features of HME picked up within seven days after birth. This was possible as antenatal ultrasonography was showing dilatation of the right lateral ventricle of the fetus. Baby had macrocephaly at birth and refractory convulsions from day two of life. Convulsions were managed successfully. Baby was discharged on necessary treatment and parents were given appropriate counseling. Careful examination and high index of suspicion can help in early diagnosis and better outcome. Our review of the literature did not yield any reports of patients with isolated non-syndromic HME presenting with refractory seizures as initial presentation in the neonatal age group. To our knowledge, this is the first report of its kind.

The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus / Síndrome de Gorlin-Goltz: diagnóstico de um caso associado à cardiopatia e diabetes mellitus 2

The Gorlin-Goltz syndrome (GGS) is a hereditary, autosomal dominant condition, with high penetrance and variable expressivity, resulting from mutations in the genes PTCH1, PTCH2, or SUFU. The diagnosis is based on the presence of 2 major criteria or a major criterion associated with 2 minor criteria, including multiple basal cell carcinomas, keratocystic odontogenic tumor (KOT), and bifid rib. Other endocrine, neurological, ophthalmologic, genital, respiratory, and cardiovascular alterations are found in the literature, but with variable manifestations. This study reports the case of a patient diagnosed with GGS associated with diastolic congestive heart failure and type 2 diabetes mellitus, who underwent multiple treatments for components of the syndrome. More recently, the patient underwent decompression followed by cystic enucleation of two KOTs in the jaw, oral rehabilitation with removable prosthodontics, cardiological evaluation, and attempted clinical control of endocrine and cardiac problems.

A síndrome de Gorlin-Goltz (SGG) é uma condição hereditária, autossômica dominante, com alta penetrância e expressividade variável, decorrente de mutações nos genes PTCH1, PTCH2 ou SUFU. O diagnóstico é baseado na presença de dois critérios maiores ou um critério maior associado a dois critérios menores, dentre eles múltiplos carcinomas basocelulares, tumor odontogênico ceratocístico (TOC) e costela bífida. Outras alterações endócrinas, neurológicas, oftalmológicas, genitais, respiratórias e cardiovasculares são encontradas na literatura, porém com manifestações variáveis. O objetivo deste trabalho é relatar um caso clínico de uma paciente sistematicamente diagnosticada com SGG associada à insuficiência cardíaca congestiva diastólica e diabetes mellitus 2 submetida a tratamentos seriados das respectivas manifestações sindrômicas. Mais recentemente, à descompressão cística seguida da enucleação de dois TOC em mandíbula, reabilitação oral com prótese total removível, avaliação cardiológica e tentativa de controle clínico das alterações endócrinas e cardíacas.

Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea / 소아과

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics.

Three Korean patients with Cantú syndrome caused by mutations in ABCC9 and their clinical manifestations

Cantú syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis, neonatal macrosomia, a distinct facial features such as macrocephaly, and cardiac defects. Since the first description by Cantú et al. in 1982, about 50 cases have been reported to date. Recently, two causative genes for CS has been found by using exome sequencing analyses: ABCC9 and KCNJ8 . Most cases of clinically diagnosed CS have resulted from de novo mutations in ABCC9. In this study, we report three independent Korean children with CS resulting from de novo ABCC9 mutations. Our patients had common clinical findings such as congenital hypertrichosis, distinctive facial features. One of them showed severe pulmonary hypertension and hypertrophic cardiomyopathy, which require medical treatment. And, two patients had a history of patent ductus arteriosus. Although two of our patients had shown early motor developmental delay, it was gradually improved during follow-up periods. Although CS is quite rare, there are the concerns about development of various cardiac problems in the lifetime. Therefore, an accurate diagnosis followed by appropriate management and genetic counseling should be provided to CS patients.

Acidemia glutárica tipo 1: presentación de un caso y revisión de la literatura / Glutaric acidemia type I. Report of a case and literature review / Acidemia glutárica tipo 1: apresentação de um caso e revisão da literatura

La acidemia glutárica tipo-1 es uno de los errores innatos del metabolismo diagnosticados con mayor frecuencia en Colombia. Es consecuencia de una alteración en el metabolismo de los aminoácidos lisina, hidroxilisina y triptófano, de la que resulta acumulación de ácidos glutárico y 3-hidroxiglutárico en los fluidos corporales. Clínicamente es un trastorno neurológico caracterizado por macrocefalia, atrofia cerebral progresiva y distonía. Por su evolución crónica es una enfermedad subdiagnosticada, de tal forma que pueden pasar varios años hasta que la sintomatología o las neuroimágenes sugieren la etiología metabólica. Sin embargo, algunos pacientes presentan la forma aguda usualmente desencadenada por una infección entre los 6 y 18 meses de edad. Por ser susceptible de manejo nutricional, es necesario hacer tempranamente el diagnóstico e iniciar el tratamiento, para prevenir o mejorar las complicaciones y enfermedades intercurrentes. Es de importancia considerar la AG-1 en el diagnóstico diferencial de pacientes con parálisis cerebral espástica o disquinética sin una historia clara de eventos hipóxicos, así como en pacientes con regresión en los hitos del neurodesarrollo. Se describe un caso con presentación aguda, que ilustra el curso clínico y el enfoque diagnóstico de la enfermedad.

Glutaric acidemia type I (GA-1) is a neurological disease of metabolic ethiology. Although considered rare, it is one of the most frequent inborn errors of metabolism in Colombia. GA-1 is caused by alterations in lysine, hydroxylysine and tryptophan metabolism, resulting in the accumulation of glutaric and 3-hydroxyglutaric acids in body fluids. Clinically, it is characterized by macrocephaly, progressive cerebral atrophy, and dystonia secondary to striatal degeneration. Due to its chronic evolution, it is usually under- diagnosed, so that several years may pass before suggestive symptoms or brain imaging findings are discovered. In some patients, the disease may appear acutely triggered by an infection between 6 and 18 months of age. Due to the availability of nutritional treatment, it is necessary to make an early diagnosis and to start treatment, in order to prevent or improve complications and associated diseases. It is important to consider GA-1 in the differential diagnosis of patients with spastic or dyskinetic cerebral palsy without a clear history of hypoxic events, as well as in patients with regression in neurological development. We report a case with acute presentation to exemplify the natural history of the disease and the diagnostic approach to it.

A Acidemia Glutárica tipo-1 é um dos erros inatos do metabolismo diagnosticados com maior frequência na Colômbia. É consequência de uma alteração no metabolismo dos aminoácidos lisina, hidroxilisina e triptófano, da que resulta acumulação de ácidos glutárico e 3-hidroxiglutárico nos fluidos corporais. Clinicamente é um transtorno neurológico caracterizado por macrocefalia, atrofia cerebral progressiva e distonia. Por sua evolução crônica é uma doença subdiagnosticada, de tal forma que podem passar vários anos até que a sintomatologia ou as neuroimagens sugerem a etiologia metabólica. No entanto, alguns pacientes apresentam a forma aguda usualmente desencadeada por uma infecção entre os 6 e 18 meses de idade. Por ser susceptível de manejo nutricional, é necessário fazer cedo o diagnóstico e iniciar o tratamento, para prevenir ou melhorar as complicações e doenças intercorrentes. É de importância considerar a AG-1 no diagnóstico diferencial de pacientes com paralisia cerebral espástica ou disquinética sem uma história clara de eventos hipóxicos, bem como em pacientes com regressão nas metas do neurodesenvolvimento. Descreve-se um caso com apresentação aguda, que ilustra o curso clínico e o enfoque diagnóstico da doença.

Enfrentamiento de macrocefalia en niños / Management of macrocephaly in children

En la mayoría de los niños con macrocefalia no se encuentra una causagrave, sin embargo, deben considerarse en el diagnóstico etiológico cuadros tratables y/o progresivos como una hidrocefalia. Un análisis cuidadoso y ordenado de los datos obtenidos en anamnesis y examen físico/neurológico, y una adecuada valoración del desarrollo psicomotor permitirán definir las probables causas de la macrocefalia y exámenes complementarios, evitando realizar procedimientos innecesarios.

Although most children with macrocephaly do not have a serious cause, treatable or progressive disorders as hydrocephalus must be considered in the diagnostic workup. A careful and orderly analysis of data obtained from anamnesis and physical / neurological examination, and a proper assessment of psychomotor development will allow the definition of likely causes of macrocephaly and examinations to accomplish, avoiding performing unnecessary procedures.

Absceso cerebral en lactante: caso clínico y revisión de la literatura / Infant brain abscess: case report and literature review

El absceso cerebral concierne a una colección de pus localizada en el parénquima cerebral. Es muy poco frecuente en los niños lactantes, predominando en los jóvenes y personas de edad avanzada. Esta entidad se presenta con manifestaciones clínicas muy variable. Los agentes etiológicos son muy diversos pero predominan los Streptococos, Staphylococcus y la klebsiella. El diagnóstico se basa en el cuadro clínico, el examen físico y los complementarios. El tratamiento se adecua al estadio en el que se encuentre la lesión inflamatoria, el germen que la produzca, el tamaño de la lesión y la condición neurológica del paciente. En el presente trabajo se presenta un lactante de 4 meses de edad con antecedentes de haber tenido una infección respiratoria alta tres meses previos a su ingreso que un mes después comenzó con fiebre de 38-39° C asociado a irritabilidad y fontanela anterior ocupada, en la tomografía contrastada se evidenció imagen hipodensa en región frontal izquierda con gran efecto de masa y desplazamiento de las estructuras de la línea media. Fue puncionado dos días consecutivos donde se evacuaron 80 ml de pus amarillento, en cada proceder al 4to día se interviene quirúrgicamente con craneotomía frontotemporal izquierda y lobectomía frontal ipsilateral con resección de toda la cápsula. Se le mantuvo con tratamiento antibiótico por 3 semanas. En la resonancia magnética postoperatoria hubo una desaparición de los signos inflamatorios del encéfalo, su evolución posterior fue satisfactoria.

A cerebral abscess is defined as a collection of pus within the cerebral parenchyma. Though rare in infants, it is common among young patients and the elderly. The clinical manifestations are varied. The predominant etiological agents include Streptococci, staphylococci and klebsiella. A patient is diagnosed based on the clinical picture, the physical exam and complementary tests. Treatment options depend on the stage of the disease, its size, the causative agent, and the neurological condition of the patient. A case is presented of a four month old infant with a history of an upper respiratory tract infection three months prior to his admission. One month later, he exhibited a high fever of 38-39 °C with irritability and a tense anterior fontanel. The CT scan revealed a hypo dense lesion in the left frontal lobe with significant mass effect and midline shift. The lesion was punctured on two consecutive days and 80 ml of yellowish pus was removed on both occasions. Four days later, a left fronto-temporal craniotomy and an ipsilateral frontal lobectomy was performed, with complete excision of the capsule. Antibiotic therapy was continued for three weeks. The post op MRI confirmed the complete excision of the lesion and disappearance of the surrounding edema. Recovery was satisfactory

Clinical features of macrocephaly at birth in Korea / 소아과

PURPOSE: This study aimed to investigate the clinical features of macrocephaly at birth in Korea using ultrasonography. METHODS: We retrospectively investigated the medical records of full-term birth neonates in Cheil General Hospital & Women's Healthcare Center from January 2000 to June 2012. The following parameters were recorded and analyzed: gestational age, sex, birth weight, height, occipitofrontal circumference (OFC), physical examination, perinatal problems, and ultrasonography results. Macrocephaly was diagnosed when the OFC was greater than two standard deviations, based on the 2007 Korean National Growth Charts. RESULTS: There were 75 neonates with macrocephaly at birth (52 boys and 23 girls), with a mean OFC of 38.1+/-0.49 cm. A comparison of the birth weight and height with the OFC value showed that height was correlated with OFC (r=0.35) but birth weight was not correlated with OFC (r=0.06). There were no remarkable findings in 56 cases (75%). Germinal matrix hemorrhage was identified in 10 cases (13%). An enlarged cerebrospinal fluid space was found in 5 cases (6.7%). There were 3 cases of mega-cisterna magna (4%), 1 case of ventriculomegaly, and 1 case of an enlarged interhemispheric space (6 mm) among these patients. In addition, a choroid plexus cyst was seen in 1 case. Mineralizing vasculopathy in both basal ganglia with no evidence of congenital infection was found in 2 cases and an asymptomatic subarachnoid hemorrhage was found in 1 case. CONCLUSION: Our results indicate that macrocephaly at birth has benign ultrasonography findings and shows a pattern of male dominance.

Crossed Polydactyly and Greig Cephalopolysyndactyly Syndrome.

Greig cephalopolysyndactyly syndrome is a rare genetic disorder, with an autosomal dominant inheritance and consisting of a triad of polysyndactyly, macrocephaly and hypertelorism. Crossed polydactyly is a finding characteristically associated with this syndrome. We report a one and half year old male child who presented with classic clinical features and family history diagnostic of the above syndrome.

Autosomal Dominant Inherited Cowden's Disease in a Family

Cowden's disease, also known as a kind of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome, is an uncommon autosomal dominant inherited complex disorder with various hamartomatous growths of multiple organs involving all three germ cell layers. It usually manifests with polyps throughout the gastrointestinal tract, ranging anywhere from 30% to 85%, and more common extra intestinal findings. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules and macrocephaly, and malignancies including breast, thyroid and endometrial carcinoma are the hallmark of the disease. Here we report on familial Cowden's diseases case of a 52-year-old male proband with mucocutaneous lesions and mutation on the PTEN gene obtained by extrapolating from gastrointestinal polyposis as a starter and his daughter who developed thyroid cancer.

Observations on the Activation of Chronic Compensated Hydrocephalus in Adult Patients / 대한신경손상학회지

OBJECTIVE: There is a broad spectrum of compensated hydrocephalus. Various terms such as long-standing overt ventriculomegaly in adult (LOVA) has been coined, however, even such terms leave diverse aspect of this condition out of account. We have experienced compensated hydrocephalus cases which were considered to be activated after a long time period of quiescent state, and tried to compare their clinical characteristics with the relatively well described entity of LOVA. METHODS: We conducted a retrospective review of 206 patients who underwent ventriculoperitoneal shunt (VPS) between February 2001 and May 2012. Of these, 6 patients had chronic compensated hydrocephalus. The clinical and radiological characteristics are evaluated. RESULTS: Definite triventriculomegaly was observed in two patients. Macrocephaly was observed in two cases, one with aqueductal stenosis (AS), the other with unknown status of aqueduct. All of the cases with triventriculomegaly were normocephalic. Spinal causes were thought as aggravating factor in two. Two endoscopic third ventriculostomy and eight VPS were performed in five patients. Four patients responded well but one took a very complicated course. CONCLUSION: The relationships between macrocephaly, triventriculomegaly, and AS suggested in other studies were inconsistent. Blockage or narrowing of cerebrospinal fluid pathways were observed at various sites. Disturbances of spinal arachnoid pathways were related to the activation in some cases. Treatment is to be tailored individually considering various reigniting event. It is suggested that this entity is to be evaluated for better nomenclature reflecting diverse aspects of this condition. Further study is needed to elucidate underlying pathophysiology and effective management.