RESUMEN
The association of dysmorphic features and failure of one or more bone marrow cell lines is well known. Examples are Fanconi's anemia and Diamond-Blackfan anemia. This report describes 3 similarly affected children from consanguineous parents, all showing low birth weight, severe growth retardation, distinct facial features, microcephaly, mental retardation and onset of severe pancytopenia in infancy without increased chromosomal breakage. We conclude that these cases represent a new familial autosomal recessive bone marrow failure syndrome.
Asunto(s)
Enfermedades de la Médula Ósea/genética , Discapacidades del Desarrollo , Facies , Trastornos del Crecimiento/genética , Pancitopenia/genética , Edad de Inicio , Anemia Aplásica , Peso al Nacer , Consanguinidad , Femenino , Humanos , Lactante , Masculino , Embarazo , SíndromeRESUMEN
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RESUMEN
We describe a 14 year old boy with antiphospholipid syndrome who initially presented at the age of 10 with recurrent loin pain, fever, weight loss, leucocytosis, thrombocytopenia, hypertension and haematuria. He had primary adrenal insufficiency with bilaterally enlarged adrenals on computed tomographic (CT) scan consistent with adrenal infarction. Renal and liver biopsies showed microthrombi in the glomerular capillaries and hepatic sinusoids respectively. The case is unusual in that hypertension rather than hypotension was dominant and a CT scan was consistent with bilateral adrenal infarction without haemorrhage. He represented with evidence of persistent hypertension with glomerulosclerosis and glomerular microthrombi on repeat renal biopsy. He continues to have permanent adrenal insufficiency with complete atrophy of his adrenals.