RESUMEN
Neonatal Langerhan's cell histiocytosis [LCH] is a rare disease which presents in the first four weeks of life with skin manifestations; although the diagnosis may be delayed till other organ involvement becomes apparent. We describe a four-month-old male infant who presented with skin lesions in the neonatal period and was diagnosed later, when involvement of lymph nodes, liver, spleen and bone became apparent. Due to the possibility of clinically unapparent involvement of other organ systems in neonatal LCH, thorough clinical, laboratory and imaging studies are mandatory for a comprehensive evaluation of all cases on presentation
RESUMEN
Medium-chain acyl CoA dehydrogenase [MCAD] deficiency is the commonest inborn error of fatty acid oxidation. Affected children usually present within the first two years of life with re c u r rent episodes of hypoketotic hypoglycemia and lethargy with high risk of mortality and morbidity. We describe a two-year old girl who presented with hypoglycemic hypoketotic coma due to MCAD and we describe the investigative work-up that led to the diagnosis. Our aim is to increase awareness of this disorder and to emphasize the need for prompt diagnosis and management. This is the first case of MCAD deficiency identified in Kuwait and we believe that this condition may be under-diagnosed