ABSTRACT
Gaucher disease is a sphingolipidosis related to glucocerebroside storage in reticuloendothelial cells leading to multisystemic disease. Liver involvement is frequent but clinical expression is rare. The aim of this study is to evaluate liver involvement among a cohort of 45 patients with type 1 Gaucher disease. Hepatomegaly often mild to moderate was seen in 86 per cent of cases. A correlation was noted between hepatic involvement, spleen enlargement and severity index score. Portal hypertension was documented in 20 per cent of cases and seemed to be primitive. Four children had cirrhosis and two a hepatopulmonary syndrome. Splenectomised patient didn't show worsening of liver involvement. Liver complications were more frequent in pediatric patients comparatively to adult patients in this cohort
ABSTRACT
Peroxisome biogenesis disorders associate the spectrum of Zellweger syndrome and Rhizomelic chondrodysplasy. We have studied two cases of Zellweger syndrome and a case of neonatal adrenoleucodystrohpy. Clinical picture consisted with neonatal hypotonia with seizures in all cases, facial dysmorphia in two cases and a punctata chondrodysplasia in one case. Deafness and blindness were found in two cases. Cerebral tomography revealed white matter hypodensities in all cases. The diagnosis of Zellweger syndrome was enhanced by high level of plasmatic very-long-chain fatty acids and deficiency of DHAP-AT activity and b oxidation of C26:0 in fibroblasts. Ultrastructural studies showed peroxisomal ghosts in one patient. Genetic analysis detected a punctual mutation on PEX 26 gene. The prognosis was poor with the death of the two Zellweger at the age of 9 month with resistant seizures, and at the age of 4 years for the ALD. The prenatal diagnosis was performed in one family
ABSTRACT
Congenital Dyskeratosis [CD] is a severe inherited disease characterised by a triad of clinical manifestations including abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia. Other clinical manifestations including lung fibrosis and liver cirrhosis worsen the prognosis. Bone marrow hypoplasia is frequently reported, 50 per cent of patients develop pancytopenia before the age of 10 years. We report here the first Tunisian case of DC diagnosed in paediatric age and revealed by a severe bone marrow failure by the age of ten years. The classic triad appeared in the first decade, epiphora, blepharitis, teeth abnormalities and a single kidney were also noted. Androgen therapy stabilised peripheral cytopenia and, decreased the need of red blood cell transfusion
Subject(s)
Humans , Male , Anemia, Aplastic/genetics , Anemia, Aplastic/etiology , AndrogensABSTRACT
Mitochondrial cytopathies are diseases due to a defect of mitochondrial respiratory chain and are characterized by the presence of morphological abnormalities of mitochondria. These diseases may be due to alterations of the mitochondrial or the nuclear genome. The clinical manifestations can be polymorphic as various organs may be involved. We report the case of a 2-year-old boy who has a declined development correlated with a distal renal tubular acidosis. His behavioural and motor development was normal until l2months when a regression of his motor milestones with a pyramidal syndrome was noted. The metabolic investigation and the cranial MRI revealed a Leigh syndrome. The biochemical and immunological studies on biopsied skeletal muscle and cultured skin fibroblasts showed a deficiency in the complex IV respiratory chain [cytochrome c oxidase or COX]