Résumé
Albright's hereditary osteodystrophy is a rare inherited metabolic disorder characterized by a typical phenotype. It may be associated with or without resistance to parathyroid hormone (pseudohypoparathyroidism). Both forms may co-exist in the same family. Pseudohypoparathyroidism Type 1 and Pseudo-pseudohypoparathyroidism occur as a consequence of reduced erythrocyte membrane coupled with Gs alpha activity. We report here the variable inheritance of hormone resistance in the presence of characteristic phenotype and reduced Gs alpha activity in the same family.
Sujets)
Enfant , Femelle , Dysplasie fibreuse polyostotique/sang , Sous-unités alpha Gs des protéines G/sang , Maladies génétiques congénitales , Humains , Pseudohypoparathyroïdie/étiologie , Pseudopseudo-hypoparathyroïdie/étiologieRésumé
The OMENS syndrome involves craniofacial maldevelopment of the orbit, ear cranial nerve and soft tissue, while OMENS-plus syndrome also includes extracraniofacial anomalies. These may be skeletal, cardiovascular, gastrointestinal, pulmonary, renal and central nervous system malformations. A fourteen-year-old girl presented with hemifacial microsomia, digital abnormalities and pancreatitis. She was diagnosed as O1M2E0N2S1--plus syndrome. Investigations revealed a type Ic choledochal cyst. The latter has not been reported as a gastrointestinal association earlier in literature to the best of the authors' knowledge.
Sujets)
Malformations multiples/diagnostic , Adolescent , Malformations crâniofaciales/diagnostic , Asymétrie faciale/étiologie , Femelle , Doigts/malformations , Humains , Malformations de la bouche/diagnostic , Nez/malformations , Syndrome , Orteils/malformationsRésumé
Hallervorden-Spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and mental deterioration. We report two sisters where diagnosis was missed till MRI showed classic imaging findings. Mutation analysis in one, revealed homozygous mutations in the PANK 2 gene. The need for clinical recognition of this entity and differentiation of this form from other static and progressive neurological illnesses is emphasized.
Sujets)
Encéphale/anatomopathologie , Enfant , Erreurs de diagnostic , Femelle , Humains , Imagerie par résonance magnétique , Neurodégénérescence associée à la pantothénate kinase/diagnostic , Phosphotransferases (Alcohol Group Acceptor)/génétiqueRésumé
Gerodermia Osteodysplastica is a rare autosomal recessive connective tissue disorder included in the cutis laxa syndromes. Twenty five cases have been reported in the world literature to date. The authors report the first case from our country, a 13 year old female having phenotypic and radiological features suggestive of this genetic disorder.