Klippel-Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review.

Klippel-Trenaunay syndrome is an uncommon, infrequent, congenital disorder characterized by a triad of capillary malformation, varicosities, and tissue and bone hypertrophy. The presence of two of these three signs is enough to obtain the diagnosis. Capillary malformations are usually present at birth, whereas venous varicosities and limb hypertrophy become more evident later. The syndrome has usually a benign course, but serious complications involving various organs, such as gastrointestinal and genitourinary organs, as well as the central nervous system, may be observed. Recently, Klippel-Trenaunay syndrome has been included in the group of PIK3CA-related overgrowth spectrum (PROS) disorders. In terms of this disorder, new results in etiopathogenesis and in modalities of treatment have been advanced. We report here a review of the recent genetic findings, the main clinical characteristics and related severe complications, differential diagnoses with a similar disorder, and the management of patients with this complex and uncommon syndrome.

SARS-CoV-2: The Impact of Co-Infections with Particular Reference to Mycoplasma pneumonia-A Clinical Review.

Background: After its 2019 outbreak in Wuhan, scientists worldwide have been studying the epidemiology and clinical characteristics of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) in children. Evidence indicates that children with SARS-CoV-2 infection are more likely to develop upper and lower respiratory tract infections in association with other infectious agents, such as Mycoplasma pneumoniae. Here, we conducted a systematic review of SARS-CoV-2 and Mycoplasma pneumoniae co-infection and their clinical course in children. Methods: We evaluated the published literature on SARS-CoV-2 by using the medical databases PubMed, Embase, Cochrane Library, Scopus, and Web of Science. In the searches, the Medical Subject Heading (MeSH) terms "SARS-CoV-2 and Mycoplasma pneumoniae" AND "co-infection SARS-CoV-2" were used. Studies describing co-infection with SARS-CoV-2 and Mycoplasma pneumoniae in children were included in the review. The study was conducted and reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Results: According to the PRISMA guidelines, of the 38 identified studies, 14 were conducted in children (children/adolescents 0-18 years), 6 of which were included in this review. In total, 5867 children under the age of 17 years were diagnosed with SARS-CoV-2 infection through real-time polymerase chain reaction analysis of nasopharyngeal swabs to detect viral RNA. Elevated serum IgM levels specific to Mycoplasma pneumoniae were observed in 534 children and were associated with a Kawasaki-like illness in one child. To date, all of the children are alive. Conclusion: This study underlines the importance of considering, depending on the clinical context, a possible co-infection between SARS-CoV-2 and atypical bacteria, such as Mycoplasma pneumoniae. Co-infections with other respiratory pathogens during the pandemic and hospital stay can cause mistakes in clinical diagnostic and drug treatment. Physicians should perform early differential diagnosis of SARS-CoV-2 in association with other infectious agents. Further studies are needed to have a real incidence of these co-infections and their impact on symptoms, course, and outcome of patients with SARS-CoV-2.

NRXN1 Deletion in Two Twins' Genotype and Phenotype: A Clinical Case and Literature Review.

In the literature, deletions in the 2p16.3 region of the neurexin gene (NRXN1) are associated with cognitive impairment, and other neuropsychiatric disorders, such as schizophrenia, autism, and Pitt-Hopkins-like syndrome 2. In this paper, we present twins with deletion 2p16.3 of the NRXN1 gene using a comparative genomic hybridization array. The two children had a dual diagnosis consisting of mild cognitive impairment and neurodevelopmental delay. Furthermore, they showed a dysmorphic phenotype characterized by facio-cranial disproportion, turricephalus, macrocrania, macrosomia, strabismus, and abnormal conformation of both auricles with low implantation. The genetic analysis of the family members showed the presence, in the father's genetic test, of a microdeletion of the short arm of chromosome 2, in the 2p16.3 region. Our case report can expand the knowledge on the genotype-phenotype association in carriers of 2p16.3 deletion and for genetic counseling that could help in the prevention and eventual treatment of this genetic condition. Newborn carriers should undergo neurobehavioral follow-ups for timely detection of warning signs.

The Evolution of the Role of Imaging in the Diagnosis of Craniosynostosis: A Narrative Review.

Craniosynostosis, the premature closure of cranial sutures, is one of the principal causes of pediatric skull deformities. It can cause aesthetic, neurological, acoustic, ophthalmological complications up to real emergencies. Craniosynostosis are primarily diagnosed with accurate physical examination, skull measurement and observation of the deformity, but the radiological support currently plays an increasingly important role in confirming a more precise diagnosis and better planning for therapeutic interventions. The clinician must know how to diagnose in the earliest and least invasive way for the child. In the past, technological limitations reduced the choices; today, however, there are plenty of choices and it is necessary to use the various types of available imaging correctly. In the future, imaging techniques will probably rewrite the common classifications we use today. We provide an updated review of the role of imaging in this condition, through the ages, to outline the correct choice for the clinician for an early and non-invasive diagnosis.

Sutures ultrasound: useful diagnostic screening for posterior plagiocephaly.

PURPOSE: Posterior plagiocephaly (PP) is a common clinical condition in pediatric age. There are two main causes of PP: postural plagiocephaly and craniosynostosis. Early diagnosis is important, as it prevents neurological complications and emergencies. Diagnosis in the past was often made late and with imaging tests that subjected the infant to a high radiation load. Suture ultrasound does not use ionizing radiation; it is easy to perform, allows an early diagnosis, and directs toward the execution of the cranial 3D-CT scan, neurosurgical consultation, and possible intervention. The aim of the study is to describe the high sensitivity and specificity of suture ultrasound for the differential diagnosis between plagiocephaly and craniosynostosis. METHODS: We reported our prospective experience and compared it with the data in the literature through a systematic review. The systematic review was conducted on electronic medical databases (PubMed, Embase, Cochrane Library, Scopus, and Web of Science) evaluating the published literature up to November 2020. According to Preferred Reporting Items for Systematic Reviews and Meta-ANALYSES (PRISMA statement), we identified 2 eligible studies. Additionally, according to AMSTAR 2, all included reviews have been critically rated as high quality. A total of 120 infants with abnormal skull shape were examined in NICU. All underwent clinical and ultrasound examination. RESULTS: Of the total, 105 (87.5%) had plagiocephaly and 15 dolichocephaly/scaphocephaly (12.5%). None of these had associated other types of malformations and/or neurological disorders. The synostotic suture was identified ultrasonographically in 1 infant and subsequently confirmed by 3D CT scan (100%). CONCLUSION: Cranial sutures ultrasonography can be considered in infants a selective, excellent screening method for the evaluation of skull shape deformities as first technique before the 3D CT scan exam and subsequent neurosurgical evaluation. Cranial suture ultrasonography should be considered part of clinical practice especially for pediatricians.

Chilblains-like lesions and SARS-CoV-2 in children: An overview in therapeutic approach.

SARS-CoV-2 (Severe Acute Respiratory Syndrome, Coronavirus, type 2) is the virus responsible for the global pandemic of Coronavirus disease 2019 (COVID-19) that began in China in December 2019. The variability of nasal olfactory symptoms in pediatric patients is interlinked with possible warning signs, including respiratory, gastrointestinal, ocular, or dermatological symptoms. Skin findings in patients with COVID-19 can range from petechiae to papulovesicular rashes to diffuse urticaria and can be confused with rashes of non-COVID-19 conditions. These lesions typically appear early during COVID-19 and are thought to be secondary to viral replication or circulating cytokines. Herein, we discuss two pediatric cases, presenting with skin lesions, which tested positive for SARS-CoV-2, thus, briefly reviewing current literature for similar reports and related management. Although these lesions heal spontaneously in most cases, an adequate "targeted" therapeutic approach can shorten the time and the discomfort of the skin disease.

Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion.

The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities. Patients affected also present typical facial dysmorphisms and skeletal malformations, and it is thought that the composite clinical picture may fall into the chromosomal rearrangement architecture. With the major aim of better framing its related clinical and diagnostic paths, we describe a patient carrying a de novo invdupde[8p] whose clinical features have not been described so far. Hence, through an extensive genotype-phenotype correlation analysis and by reviewing the dedicated scientific literature, we compared our patient's features with those reported in other patients, which allows us to place our proband's expressiveness in an intermediate area, widening the scope of the already known invdupde[8p] genotype-phenotype relationship.

Secondary Scoliosis as a Complication of Acute Transverse Myelitis in a Child.

Acute transverse myelitis (ATM) is a rare neurological condition that affects the spinal cord. Several events, including infections, autoimmune conditions, inflammatory, and drug-induced factors, may cause this disorder. Correct and rapid etiological diagnosis is necessary in order to start appropriate treatment that mainly consists of immunomodulating therapy, high dose intravenous corticosteroids, and in plasma exchange in noninfectious cases. The outcome is varied and depends on several factors. In children, the prognosis is usually good. We report a case of an 11-year-old boy who presented with interscapular pain, right leg steppage, homolateral hyposthenia of the upper limb, and signs of autonomic dysfunction. After performing specific and instrumental exams, a diagnosis of transverse myelitis was reached, and appropriate therapy was performed. A few days post-treatment, the child developed a secondary scoliosis, involving a thoracolumbar curve with loss of cervical and lumbar lordosis. After rehabilitative treatment was undertaken for 12 months, a complete recovery and normal restoration of spinal physiological curves was obtained. The pediatric cases of ATM have a good response to steroid therapy combined with physiotherapy. Collaboration among the various specialists is worthwhile, in order to lead to a correct and rapid diagnosis.

Onicomadesis asociada a la enfermedad de boca, mano, pie / Onychomadesis associated to mouth, hand, and foot disease

Introducción: la onicomadesis es el desprendimiento completo y espontáneo de la uña desde su extremo proximal, sin dolor o inflamación, consecutivo a la detención mitótica de la matriz ungular que conlleva a un cambio de su función. Objetivo: describir una serie de casos de onicomadesis atendidos en la consulta de Dermatología del Hospital Pediátrico Docente del Cerro, entre noviembre y diciembre del año 2017, después de presentar un cuadro clínico compatible con enfermedad boca, mano, pie, con la finalidad de contribuir al conocimiento de esta patema. Presentación de los casos: las edades estuvieron comprendidas en un rango entre 1 y 12 años, con solo 3 pacientes correspondientes al sexo masculino y solo uno con el color de la piel negra. Los días previos al padecimiento de la enfermedad boca, mano, pie se enmarcan entre 15 y 47 días de haber tenido los síntomas que indujeron al diagnóstico del citado morbo. El estudio virológico se efectuó en dos pacientes con presencia del Coxsackie A6. La evolución resultó satisfactoria en todos los casos. Conclusiones: los hallazgos, en general, coinciden con los mencionados en la literatura. Todos los pacientes presentaron semanas anteriores signos y síntomas compatibles con enfermedad boca, mano, pie. Es necesario orientar a los padres de los enfermos con este morbo, la posibilidad de la ocurrencia de onicomadesis como complicación, cuyo tratamiento es sintomático, seguido de buen pronóstico, para evitar la ansiedad familiar y los gastos de recursos innecesarios(AU)

Introduction: onychomadesis is the total and spontaneous detachment of the nail from its proximal end, without pain or inflammation, and following the mitotic halting of the nail matrix that leads to a change in its function. Objective: to describe a series of cases of onychomadesis attended in the Dermatology clinic of the Pediatric Teaching Hospital of Cerro, in the period of November to December of 2017, after presenting clinical manifestations compatible with mouth, hand, and foot disease, and in order to contribute to the knowledge of this pathology. Presentation of cases: ages were among 1 and 12 years old, with only 3 patients corresponding to the male sex and only one with black skin. The days before presenting symptoms of mouth, hand, and foot disease were between 15 and 47 days after having the symptoms that led to the diagnosis of the aforementioned disease. The virological study was carried out in two patients with the presence of Coxsackie A6. The evolution was satisfactory in all cases. Conclusions: in general the findings coincide with those mentioned in the literature. All patients presented previous signs and symptoms compatible with mouth, hand, and foot disease in the previous weeks. It is necessary to guide the parents of patients with this disease on the possibility of the onychomadesis occurrence as a complication, whose treatment is symptomatic, followed by a good prognosis to avoid family anxiety and the expense of unnecessary resources(AU)

Características clínico epidemiológicas de pacientes pediátricos con enfermedad boca, mano, pie / Clinical epidemiological characteristics of pediatric patients with mouth, hand and foot disease

Introducción: la enfermedad boca, mano, pie es una enfermedad febril eruptiva provocada por la infección por los virus Coxsackie, consistente en fiebre, exantema pápulo-vesicular en las manos, los pies y un enantema ulceroso en la boca. Objetivos: indagar la etiología viral y describir las características clínico epidemiológicas de la entidad. Métodos: estudio descriptivo prospectivo en 54 pacientes menores de 18 años, diagnosticados con la enfermedad boca, mano, pie, atendidos en el Hospital Pediátrico Docente del Cerro, de septiembre a noviembre de 2017. Se incluyeron aquellos con lesiones vesiculares o pápulas vesiculares, distribuidas en la piel y úlceras en la mucosa oral; y se excluyeron los pacientes con otras entidades exantemáticas o vesiculares. Las variables investigadas resultaron: la edad, el sexo, los signos, los síntomas clínicos de infección, el leucograma y el estudio virológico. La selección de la muestra fue de manera no probabilística consecutiva. Los datos se procesaron por el paquete estadístico XLSTAT con análisis univariado. Resultados: el grupo entre 1-3 años obtuvo 53,7 por ciento, y el sexo masculino el 68,5 por ciento. Las lesiones cutáneas fueron más frecuentes en la cara, las extremidades, los glúteos y el tronco (68,6 por ciento), seguido de la zonas de la cara, las extremidades y el tronco (29,6 por ciento). El enantema fue apreciado en el 48,1 por ciento, la fiebre en el 61,1 por ciento, la fiebre más secreción nasal en el 44,4 por ciento y el prurito en el 70,3 por ciento. El conteo leucocitario alcanzó 11,1 x 109 células. Los polimorfonucleares obtuvieron promedio de 37,9 y los linfocitos 70,3. En 49 de los 54 pacientes se aisló el virus Coxsackie A6. Conclusiones: se describe la enfermedad boca, mano, pie en forma atípica, cuyo cuadro clínico coincide con lo aparecido en la literatura(AU)

Introduction: mouth, hand and foot disease is an eruptive febrile illness caused by the infection of Coxsackie viruses, and it consists in fever, papulo-vesicular exanthema in the hands, feet and an ulcer enanthema in the mouth. Objectives: to investigate the viral etiology and describe the clinical epidemiological characteristics of the entity. Methods: prospective descriptive study in 54 patients under 18 years old diagnosed with mouth, hand and foot disease, and whom were attended at the Pediatric Teaching Hospital of Cerro from September to November 2017. Those with vesicular lesions or vesicular papules distributed in the skin, and ulcers in the oral mucosa were included in the research; and patients with other exanthematic or vesicular entities were excluded. The variables investigated were: age, sex, signs, clinical symptoms of infection, leukogram and virological study. The selection of the sample was consecutive non-probabilistic. The data was processed by the XLSTAT statistical package with univariate analysis. Results: the group from 1 to 3 years old represented the 53.7 percent, and the male sex the 68.5 percent y. Skin lesions were more frequent on the face, extremities, buttocks and trunk (68.6 percent), followed by facial, limbs and trunk areas (29.6 percent). Enanthem was visible in 48.1 percent, and fever appeared in 61.1 percent, fever plus nasal discharge in 44.4 percent and itching in 70.3 percent y The leukocyte count reached 11.1 x 109 cells. Polymorphonuclear cells obtained an average of 37.9 and lymphocytes of 70.3. In 49 of the 54 patients the Coxsackie A6 virus was isolated. Conclusions: mouth, hand, and foot disease is described in an atypical form, whose clinical manifestations coincide with what appeared in the literature(AU)