Niemann pick type C disease: Case report

Diagnosis was guided by theflorphological finding in bone marrow smears- of foamy and sea-blue histiocytes and confirmed by.Jhe measurement of lysosomal sphin-gomyelinase activity below normal values.

📌 3 Key Takeaways

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Objective & Hypothesis:Niemann Pick disease type C ( NPC ) is an autosomal recessive neurometabolic disorder characterized biochemically by a disturbed intracelluler processing of exogenous cholesterol with lysosomal accumulation of unesterified cholesterol in certain tissues.

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Key Findings & Data:Genetic heterogeneity has recently been established and the mapping of the major gene has been assigned to 18q 11-12.

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Conclusion & Impact:Diagnosis was guided by theflorphological finding in bone marrow smears- of foamy and sea-blue histiocytes and confirmed by.Jhe measurement of lysosomal sphin-gomyelinase activity below normal values.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Niemann-Pick hastalıkları · Lizozomal depolama hastalıkları · Çocuk

Abstract

Niemann Pick disease type C ( NPC ) is an autosomal recessive neurometabolic disorder characterized biochemically by a disturbed intracelluler processing of exogenous cholesterol with lysosomal accumulation of unesterified cholesterol in certain tissues. Genetic heterogeneity has recently been established and the mapping of the major gene has been assigned to 18q 11-12. The classic NPC patient present in early childhood with ataxia and progressive dementia. The neurologic features of this disease are vertical supranuclear ophtalmoplegia, ataxia, dysar-Ma, mental-motor retardation and seizures. Hepatosplenomegaly is usually detected during early childhood. We report a rare case of NPC in a13 year-old boy who is presented with splenomegaly, mental-motor retardation, ataxia and seizures. Diagnosis was guided by theflorphological finding in bone marrow smears- of foamy and sea-blue histiocytes and confirmed by.Jhe measurement of lysosomal sphin-gomyelinase activity below normal values.

Özet

Niemann Pick Tip C hastalığı eksojen kolesterolün intrasellüler metabolizmasında biokimyasal bir bozukluk nedeniyle, belli dokularda anesterifiye kolesterolün lizozomal birikimi He karakterize otozomal resesif nörometabolik bir hastalıktır. Genetik heterojenite son zamanlarda ortaya konulmuştur ve majör genin haritası 18. kromozomun kısa kolundaki 11 ve 12. lokuslara atfedilmiştir. Klasik Niemann Pick Tip C hastalığı erken çocukluk çağında ataksi ve ilerleyici demans ile ortaya çıkar. Bu hastalığın nörolojik özellikleri vertikal supranükleer oftalmopleji, ataksi, dizartri, mental-motor retardasyon ve nöbettir. Hepatosplenomegali çoğunlukla erken çocukluk çağında saptanır. Biz splenomegali, mental motor retardasyon, ataksi ve nöbetleri olan 13 yaşında bir erkek çocukta NPC'nin nadir bir vakasını sunuyoruz. Tanı sfingomyelinaz aktivitesinin normal değerlerin altında olduğunu saptayarak ve köpük hücreleri ve deniz mavisi histiyositlerin kemik iliği yaymasındaki morfolojik bulguları ile konuldu.

Keywords

Niemann-Pick hastalıkları Lizozomal depolama hastalıkları Çocuk Erkek Splenomegali Zeka geriliği Ataksi Tanı Niemann-Pick Diseases Lysosomal Storage Diseases Child Male Splenomegaly Mental Retardation Ataxia Diagnosis

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Cite This Article

ÜNAY, B., VURUCU, S., AKIN, R., KÜREKÇİ, E., GÜL, D., GÖKÇAY, E. (2003). Niemann pick type C disease: Case report. Gülhane Tıp Dergisi, Cilt: 45 - Sayı: 3, 271–273. https://ajindex.com/articles/226272

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