Résumé
A 4 month old Afghan male infant presented with partial albinism, hepatosplenomegaly and pancytopenia. Skin and hair shaft microscopic examination revealed large clumped melanosomes and Griscelli syndrome was diagnosed. Unless treated with bone marrow transplantation, it is a fatal disease in accelerated phase. Pediatricians should consider this syndrome in infants with abnormal light hair because early diagnosis could be life saving
Sujets)
Humains , Mâle , Albinisme , Syndrome , Mélanosomes , Diagnostic précoce , Transplantation de moelle osseuse , Poils/malformations , Lymphohistiocytose hémophagocytaire/thérapie , Pancytopénie , Hépatomégalie , SplénomégalieRésumé
Subcutaneous fat necrosis of the newborn [SCFN] is an unusual disorder which occurs in term or post-term newborns due to perinatal stress. SCFN appears by firm nodules over the trunk, arm, buttock, thigh and cheeks in the first several weeks of life. Prevalence of SCFN is unknown. Race and sex do not play a role in this condition Hypocalcaemia and rarely hypercalcaemia are considered as major causes of morbidity and mortality in cases of SCFN. We report a case of SCFN in a two month male infant complicated with hypercalcemia and hyperuricemia