Snyder-Robinson syndrome

Snyder-Robinson syndrome, also known as spermine synthase deficiency, is an X-linked intellectual disability syndrome (OMIM #390583). First described by Drs. Snyder and Robinson in 1969, this syndrome is characterized by an asthenic body habitus, facial dysmorphism, broad-based gait, and osteoporosis with frequent fractures. We report here a pediatric autopsy of a 4 year old male with a history of intellectual disability, gait abnormalities, multiple fractures, and seizures previously diagnosed with Snyder-Robinson syndrome with an SMS gene mutation (c.831G>T:p.L277F). The cause of death was hypoxic-ischemic encephalopathy secondary to prolonged seizure activity. Although Snyder-Robinson syndrome is rare, the need to recognize clinical findings in order to trigger genetic testing has likely resulted in under diagnosis.

De Sanctis-Cacchione Syndrome in a female infant - Case report / Sindrome de De Sanctis-Cacchione em lactente do sexo feminino - Relato de caso

The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported.

A síndrome de de Sanctis-Cacchione é a forma mais rara e grave do xeroderma pigmentoso e é caracterizada por microcefalia, hipogonadismo, alterações neurológicas e retardo mental e de crescimento, com poucos casos publicados. Relatam-se os achados clínicos compatíveis com essa síndrome e a terapêutica instituída em uma lactente de um ano e nove meses, com diagnóstico prévio de xeroderma pigmentoso.

Seckel syndrome with chromosomal 18 deletion.

Four case records of patients with Seckel Syndrome (SS) were retrieved. Typical of bird headed dwarfism was seen in all. Chromosome 18 deletion was seen in one child with SS. MRI abnormalities were detected in 3 patients. Cytogenetic studies and neuroimaging is likely to provide important diagnostic and prognostic information.

Mental retadation: a MRI study of 146 Brazilian children

Estudamos, através de ressonância magnética (RM), 146 crianças com quociente de inteligência menor que 70. 50% das RM não exibiram nenhum sinal de lesão (grupo N), enquanto adelgaçamento focal da junção do corpo e esplênio do corpo caloso, assimetria ventricular, leucomalácia periventricular, gliose e cisto aracnóide foram os achados mais freqüentes no restante das crianças (grupo L). Estresse materno e alteração da pressão arterial foram os achados mais freqüentes da história do pré-natal das crianças de ambos os grupos. Antecedentes familiares de deficiência mental apareceram em 30% de ambos os grupos. História de alcoolismo foi importante no grupo N. Atraso no desenvolvimento neuropsicomotor foi encontrado em 80% das crianças de ambos os grupos. Agressividade foi o achado mais freqüente na história pós-natal destas crianças.

Acrocallosal syndrome.

Presented here is a case of a 8 year old boy with typical clinical manifestations of Acrocallosal syndrome. The characteristic features of this syndrome are craniofacial abnormalities, distinctive digital malformation, mental retardation. The clinical and major nosologic aspects of this condition are discussed.

Juvenile polyposis with macrocephaly and mental retardation (? Ruvalcava-Myhre-Smith syndrome)--a case report.

A male child aged one and a half years with a history of rectal bleeding, on examination was found to have severe degree of anaemia with grade -III protein-energy-malnutrition and pneumonia. Colonoscopy revealed features of colonic polyposis. An upper gastro-intestinal endoscopy showed a duodenal polyp while barium meal follow-through did not reveal any polyps in the small intestine. Total colectomy and ileo-rectal anastomosis was done. Following histopathological study, the diagnosis of Juvenile polyposis syndrome was made, a very rare entity and is known to lead to adenocarcinoma of the gastrointestinal tract. In addition the child was found to have macrocephaly and mental retardation. The rarity and importance of the diagnosis of juvenile polyposis syndrome associated with macrocephaly and mental retardation (?Ruvalcava-Myhre-Smith syndrome) prompted the documentation of this case.

Sjogren - Larsson Syndrome: a case report.

Two male siblings aged 8 and 11 years, born of non-consanguineous parents, presented with classical triad of congenital ichthyosis, mental retardation and spastic diplegia. They had no eye, hair, nails and teeth changes. MRI showed diffuse dysmyelination.

Sjögren-Larsson syndrome: an appraised of the litterature and presentation of two cases

A Síndrome de Sjögren-Larsson é uma doença autossômica recessiva rara com distribuiçäo universal. Consiste em ictiose, displegia espástica e retardo mental causado por um defeito enzimático na oxidaçäo do álcool-graxo. Nós relatamos dois casos e fazemos uma revisäo da literatura respectiva. As duas crianças tinham atividade deficiente da NAD oxidorredutase. Foram estudados os lípides de membrana das células plasmáticas e eritrócitos. Bons resultados foram obtidos em um dos pacientes quando submetido a dieta na infância precoce o que se correlacionou com diminuiçäo do álcool-graxo no plasma. Entretanto näo obtivemos melhora clínica no outro paciente cujo tratamento teve início tardio.Terapia com etretinato foi necessária para controlar os sintomas cutâneos neste segundo paciente.

Congenital insensitivity to pain with anhidrosis: a case report

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA.

Chilaiditi's sign in a 12 year old mentally instutionalised blind girl: a new association?

A 12 year old, blind Bedouin female with microcephaly, profound mental retardation, proportionate short stature and associated hepato diaphragmatic interposition of the colon is reported. It seems that this association represents a new syndrome

Sturge-weber diseases without facial nevus

We report a patient with Sturge-Weber Disease who presented with intractable seizures and intellectual deterioration. There were no facial or scalp lesions. Brain CT showed left parieto-occipital calcification. The patient was treated surgically and the histology confirmed the diagnosis of Sturge-Weber disease. The diagnosis and clinical management of this rare variant of Sturge-Weber disease without a facial naevus are discussed

Variaciones del peso encefálico en enfermedades mentales de larga duración / Encephalic weight variations in long-lasting mental disease

Se estudiaron los datos obtenidos de 519 informes de necropsias de los hospitales "Salvador Allende" y Psiquiátrico de la Habana, analizándose el peso encefálico, cerebral, edad, sexo y causa de muerte. Se agruparon los datos en cuatro poblaciones que incluían esquizofrénicos, psicosis maniacodepresiva, retraso mental y el grupo control (sin patología psiquiátrica, neurológica o traumatismo craneoencefálico), calculándose los valores promedios de sus pesos encefálicos y cerebrales. Los resultados obtenidos permiten concluir que la esquizofrenia y retraso mental disminuyen significativamente ambos pesos, no así la psicosis maniacodepresiva; además, que los valores promedios de estos pesos son dependientes entre sí y descienden con el incremento de la edad, no existiendo correlación con el sexo