منابع مشابه
Caroli’s disease in two siblings
We report two cases of Caroli’s disease in a pair of siblings. The first patient, a seven year-old female child, presented with right upper quadrant abdominal pain for one year. Physical examination showed abdominal bulging and hepatosplenomegaly. Laboratory investigations revealed liver function damage. Abdominal ultrasonography and computer tomography showed intrahepatic bile duct dilatation ...
متن کاملLinkage of Parkinson’s disease in two very early onset siblings to a locus on chromosome 1
Parkinson’s disease (PD) is a prevalent neurodegenerative disease that usually affects individuals over 50 years of age. Age at onset in a small subset of PD cases is considerably lower, and these are considered early-onset PD (EOPD) patients. Most PD cases appear sporadic, but approximately 15% are familial, and some of the familial cases exhibit Mendelian inheritance. Genetic analysis of fami...
متن کاملType 1 and type 3 Gaucher disease in two siblings in a family: 2 unusual case reports.
Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India. Around five hundred cases are identified and diagnosed in India. We are reporting two interesting cases of type 1 non-neuropathic and type 3 juvenile s...
متن کاملStargadt’s disease in two Nigerian siblings
Stargardt's disease is an inherited macular dystrophy that is transmitted in an autosomal recessive or dominant pattern. The disorder is typically characterized by impairment of central vision, with onset around the first 10-20 years of life. Stargardt's disease is rare in sub-Saharan Africa. This is probably the first reported case in the subregion. We present two siblings with the disease. Pr...
متن کاملGaucher Disease and Gaucher Cells
4. Özsoylu S, Allahverdi H, Laleli Y, Pirnar A. Platelet survival in childhood idiopathic thrombocytopenic purpura in remission. J Pediatr 1976;89:388-390. 5. Özsoylu Ş, Karabent A, Irken G, Tuncer M. Antiplatelet antibody in childhood idiopathic thrombocytopenic purpura. Am J Hematol 1991;36:82-85. 6. Özsoylu Ş, Ertürk G. Oral megadose methylprednisolone for acute childhood idiopathic thromboc...
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ژورنال
عنوان ژورنال: Medical Journal Armed Forces India
سال: 2008
ISSN: 0377-1237
DOI: 10.1016/s0377-1237(08)80028-7