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November 21-22, 2018 | Paris, France
8 th World Congress on
Rare Diseases and Orphan Drugs & Clinical Trials & Regulator y Affairs
Euro Orphan Drugs 2018 &WCT 2018 | November 21-22, 2018 Paris, France Journal of Genetic Syndromes & Gene Therapy | ISSN: 2157-7412 Volume 9
Djamel Eddine Ouail, J Genet Syndr Gene Ther 2018, Volume:9
DOI: 10.4172/2157-7412-C3-025
Niemann Pick disease, about three cases
Niemann-Pick type B disease (NPD type B) is a Lysosomal disease with autosomal
recessive inheritance, which is defined by Sphingomyelin accumulation within
macrophages secondary to a deficiency of sphingomyelinase activity. We describe three
adult cases of NPD type B.
Observations: patient CC born in 1999 the last of a brotherhood of 9 brothers from a
non-consanguineous marriage, consults for type V splenomegaly evolving gradually from
a young age without complications until then, the interview is poor apart from a notion
of hematemesis of low abundance at the time of menstruation. Clinical examination is
normal apart from splenomegaly. The blood test is normal. The enzymatic assessment
found a weak activity of Sphingomyelinase acid, the genetic study had detected two
homozygous mutations confirming the illness of Niemann-Pick. At the time of the family
investigation the brother C A presented a Splenomegaly is the enzymatic assessment as
well as the genetic study had confirmed the diagnosis.
Patient S A Born in 1982, married and mother of two children living in good health,
consulted for febrile Polyarthralgia associated with headache. In his antecedents noted a
thrombocytopenia of autoimmune allure followed in hematology and put under corticoids.
The clinical examination found a Hepatosplenomegaly without portal hypertension, the
biology revealed thrombocytopenia at 40 000 / mm3 without hemorrhagic syndrome, the
rest of the balance sheet is without abnormality. The enzymatic assay and the genetic
study confirmed the diagnosis.
The three patients benefited from the only symptomatic treatment while waiting for a
specific treatment.
Biography
Djamel Eddine Ouail has completed his PhD from Algeirs University. He is Hospitalo University Assistant in
the department of internal medicine at University Hospital Center of Bejaia, Abderrahmane Mira University of
Bejaia Algeria.
Email id:
Djamel Eddine Ouail
Abderrahmane Mira University, Algeria
CO-Authors
Fayçal Bouali, Djamila Si Ahmed and
Meriem Tebbani
Abderrahmane Mira University, Algeria