A CASE OF PRADER-WILLI SYNDROME IN A GIRL WITH A SMALL EXTRA CHROMOSOME

A characteristic case of Prader-Willi syndrome is reported in a girl who showed, additionally, the presence of a small extra chromosome, possibly a fragment of a D or G group chromosome. Available members of the proposita's family were found to be phenotypically and cytologically normal. The case is compared with those previously reported.     

A PATIENT WITH A DEFICIENCY OF SERUM-CARNOSINASE ACTIVITY

A patient with severe mental retardation, generalized convulsions and electro-encephalo-graphic abnormalities has been described. A marked carnosinuria was observed on a regular diet as well as on a diet which was essentially free of carnosine. No carnosine was found in plasma of this patient on any occasion. The serum-carnosinase activity was extremely diminished compared to control subjects. Oral loading with L-carnosine resulted in a much greater excretion of the administered L-carnosine compared to a control subject. The consanguineous parents of the patient also excreted large amounts of the dipeptide and had decreased serum-carnosinase activities. Infusion with freshly prepared donor plasma, containing active carnosinase, resulted in a temporary elevation of the enzymic activity in serum and a decrease of carnosine excretion in urine.     

A Reply

No abstract available for this article.     

A Case of Concurrent Proteus Syndrome and Hemophilia A

Background

Proteus syndrome is a very rare condition with less than 100 confirmed cases reported worldwide. We report a case of Proteus syndrome in a two-year-old male who has hemophilia A comorbidity.

Case Presentation

A two-year-old male patient was admitted with the chief complaint of severe bleeding in mouth cavity after trauma for two weeks. At admission he was found to have petechiae on buccal mucosa and fecal discoloration due to GI bleeding. We noted multiple abnormalities in his musculoskeletal system and skin. He had lymph edema in left leg, hemihypertrophy, macrodactyly in both foots and macrocephaly. With the history of severe bleeding and recurrent blood product transfusion, we suspected a hemorrhagic disorder. The reduced level of Factor VIII activity confirmed the diagnosis of hemophilia A. Considering patient''s various musculoskeletal abnormalities according to the diagnostic criteria and after ruling out similar disorders the diagnosis of Proteus syndrome was established.

Conclusion

Because of the variability of clinical features, Proteus syndrome can be confused with other disorders of multiple tissue overgrowth. Our case of Proteus syndrome, who had hemophilia A comorbidity outlines the challenges in diagnosis of such rare combination of diseases.