RESUMO
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.
Assuntos
Humanos , Masculino , Pré-Escolar , Deficiência Intelectual Ligada ao Cromossomo X/patologia , Autopsia , Evolução Fatal , Hipóxia-Isquemia Encefálica/patologia , Deficiência Intelectual/patologia , Deficiência Intelectual Ligada ao Cromossomo X/diagnóstico , Convulsões/patologia , Espermina SintaseRESUMO
RESUMO Descrevemos paciente de 27 anos com síndrome de Coffin-Lowry, com quadro de pneumonia comunitária grave, choque séptico e insuficiência respiratória. Sumarizamos a assistência ventilatória mecânica, bem como o período de internação em unidade de terapia intensiva.
ABSTRACT We describe a 27-year-old patient with Coffin-Lowry syndrome with severe community pneumonia, septic shock and respiratory failure. We summarize both the mechanical ventilatory assistance and the hospitalization period in the intensive care unit.
Assuntos
Humanos , Masculino , Adulto , Respiração Artificial/métodos , Insuficiência Respiratória/terapia , Síndrome de Coffin-Lowry/terapia , Pneumonia/terapia , Choque Séptico/terapia , Infecções Comunitárias Adquiridas/terapia , Síndrome de Coffin-Lowry/fisiopatologia , Unidades de Terapia IntensivaRESUMO
Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed dysmorphic features, mental retardation and epilepsy, so ATR-X syndrome was considered. Hemoglobin H inclusions in red blood cells supported the diagnosis and genetic studies confirmed it. Mutation analysis for our patient showed a point mutation of thymine to cytosine on the 9th exon in the ATRX gene, indicating that Trp(C), the 220th amino acid, was replaced by Ser(R). Furthermore, we investigated the same mutation in family members, and his mother and two sisters were found to be carriers.