Biomedical subjects
Publications and source records attributed to M el Mauhoub.
Priapism is an unusual and distressing complication of sickle cell anaemia and its management has been varied and generally unsatisfactory. We report priapism in a Libyan boy with sickle cell anaemia, managed successfully by blood transfusion.
Immerslund-Grasbeck syndrome is an uncommon disease, characterized by megaloblastic anaemia and persistent proteinuria. A Libyan boy with the characteristic findings is presented. He received intramuscular vitamin B12 injections and there followed a remarkable clinical and haematological improvement.
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A 9 year old Libyan boy presented with a history of delayed walking and abnormal gait. The presence of marked muscle under-development with hypotonia led to the initial diagnosis of primary muscle disease; later, he was found to have hyperelastic, fragile skin and hypermobile joints-the cardinal features of Ehlers Danlos syndrome. In this instance the disease seems to have been inherited in an autosomal recessive manner.
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We report three Libyan children from one family with the syndrome diabetes insipidus, diabetes mellitus, optic atrophy and deafness, (DIDMOAD). Two children presented with diabetic ketoacidosis while one was discovered during screening of the family. All three children are alive, two of them on desmopressin (DDAVP) and insulin therapy and one on DDAVP only.
Two cases of cyclopic malformations are described among 450 infants of diabetic mothers during a period of four years. Both died within 30 min. of birth. Both belonged to unrelated Libyan families with absent consanguinity and family history. No chromosomal defect was found in either. A possible etiological association with uncontrolled maternal diabetes is discussed.
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Chronic myeloid leukaemia (CML) is a rare disease in children. Three varieties of CML occur in childhood. Juvenile (Infantile), adult and familial types, each with distinct clinical and laboratory findings. Prognosis of all these types of CML in childhood is uniformly bad. The mean survival of a juvenile CML is 9 months and that of adult variety is 2.5 years. The adult form of childhood CML responds to therapy, but the patient succumbs to the disease during the blast crisis. Various modalities of treatments are being tried in the juvenile CML without any beneficial effect. We report a case of juvenile CML with characteristic findings in a four year old boy.