Claustrum hyperintensity: a rare radiological correlate in Niemann-Pick disease

2021 ◽  
Vol 14 (1) ◽  
pp. e239630
Author(s):  
Debaleena Mukherjee ◽  
Souvik Dubey ◽  
Goutam Ganguly ◽  
Alak Pandit
Keyword(s):  
Autoimmune Encephalitis ◽  
Epilepsy Syndrome ◽  
Inborn Errors ◽  
Niemann Pick Disease ◽  
Fluid Attenuated Inversion Recovery ◽  
History Of ◽  
Vertical Supranuclear Gaze Palsy ◽  
Niemann Pick ◽  
Tract Infections ◽  
Pick Disease

A 5-year-old male child of consanguineous parentage, without any adverse perinatal history, presented with progressive cognitive regression predominantly in the language and attention domains, for 2 years. He had simultaneous pyramidal and extrapyramidal involvement, frequent generalised tonic-clonic seizures and recurrent respiratory tract infections. Examination was significant for vertical supranuclear gaze palsy, coarse facial features and splenomegaly. Given the clinical features, in the background of consanguinity and mother’s history of spontaneous pregnancy losses, inborn errors of metabolism were suspected. Following relevant investigations including tailored genetic study, Niemann-Pick disease type C (NPC) was diagnosed. Interestingly, MRI brain showed bilateral T2/fluid-attenuated inversion recovery claustrum hyperintensities, which are more commonly associated with autoimmune encephalitis and febrile infection-related epilepsy syndrome and not reported previously in NPC. Additionally, language regression as a presenting manifestation in NPC as opposed to classical dysarthria makes this case truly unique.

scholarly journals Niemann-pick disease: Type A presenting as a case of protein energy malnutrition

2021 ◽  
Vol 4 (2) ◽  
pp. 131-132
Author(s):  
Zara Arshad ◽  
Nimra Rana ◽  
Wajahat Sultan Baig
Keyword(s):  
Young Child ◽  
Hospital Admissions ◽  
Protein Energy Malnutrition ◽  
Unknown Etiology ◽  
Protein Energy ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Repeated Infections ◽  
Tract Infections ◽  
Pick Disease

We hereby report a rare case of a young child with Niemann-Pick disease who had multiple hospital admissions due to repeated gastrointestinal and respiratory tract infections. The disease is overall quite rare in our population however, our case highlights the fact that in any young child with repeated infections of unknown etiology, this condition should be considered and evaluated.

scholarly journals "Convulsion" – in a Niemann Pick Disease (NPD): A Case Report

2010 ◽  
Vol 22 (1) ◽  
pp. 139-141
Author(s):  
M Hasanuzzaman ◽  
MH Haidary ◽  
M Mokhlesur Rahman
Keyword(s):  
Case Report ◽  
Metabolic Disorder ◽  
Failure To Thrive ◽  
Female Child ◽  
Seizure Disorder ◽  
Anticonvulsant Drugs ◽  
Niemann Pick Disease ◽  
History Of ◽  
Niemann Pick ◽  
Pick Disease

Niemann Pick disease is a metabolic disorder, a fatal disorder of infancy characterized by delayed developmental mile stone, failure to thrive, hepatosplenomegaly and rapidly progressive neurodegenerative changes. A 16 month female child was admitted in IBMCHR with the complaints of convulsion with ARI. She had recurrent history of ARI & convulsion. She had failure to thrive, hepatosplenomegaly delayed developmental mile stone. He was diagnosed as a case of NPD with Seizure disorder. He was treated with anticonvulsant drugs & some injectable medication as a conjurvative treatment. She was discharged with further advice & ultimately the child died. DOI: 10.3329/taj.v22i1.5038 TAJ 2009; 22(1): 139-141

Natural history of Type A Niemann-Pick disease: Possible endpoints for therapeutic trials

Neurology ◽  
2006 ◽  
Vol 66 (2) ◽  
pp. 228-232 ◽  
Author(s):  
M. M. McGovern ◽  
A. Aron ◽  
S. E. Brodie ◽  
R. J. Desnick ◽  
M. P. Wasserstein
Keyword(s):  
Natural History ◽  
Type A ◽  
Therapeutic Trials ◽  
Niemann Pick Disease ◽  
History Of ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B

PEDIATRICS ◽  
2008 ◽  
Vol 122 (2) ◽  
pp. e341-e349 ◽  
Author(s):  
M. M. McGovern ◽  
M. P. Wasserstein ◽  
R. Giugliani ◽  
B. Bembi ◽  
M. T. Vanier ◽  
...  
Keyword(s):  
Natural History ◽  
Disease Type ◽  
Survey Study ◽  
Type B ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Niemann Pick Disease ◽  
History Of ◽  
Niemann Pick ◽  
Pick Disease

46. The natural history of Niemann–Pick disease type C

2008 ◽  
Vol 93 (2) ◽  
pp. 25
Author(s):  
Elizabeth Jacklin ◽  
Jackie Imrie ◽  
Suprana Dasgupta ◽  
Guy Besley ◽  
Harris Chris ◽  
...  
Keyword(s):  
Natural History ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
History Of ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Hande Nur Cesur Baltacı ◽  
Elifcan Taşdelen ◽  
Vehap Topçu ◽  
Fatma Tuba Eminoğlu ◽  
Halil Gürhan Karabulut
Keyword(s):  
Dual Diagnosis ◽  
Autosomal Recessive ◽  
Homozygous Mutation ◽  
Motor Neuropathy ◽  
Lysosomal Storage ◽  
Niemann Pick Disease ◽  
Ochoa Syndrome ◽  
Niemann Pick ◽  
Tract Infections ◽  
Pick Disease

Abstract Objectives Ochoa syndrome (UFS1; Urofacial syndrome-1) is a very rare autosomal recessive disorder caused by mutations in the HPSE2 gene that results bladder voiding dysfunction and somatic motor neuropathy affecting the VIIth cranial nerve. Niemann-Pick disease is a rare autosomal recessive lysosomal storage disorder with systemic involvement resulting from sphingomyelinase deficiency and generally occurs via mutation in the sphingomyelin phosphodiesterase-1 gene (SMPD1). Case presentation Here, we report a 6-year-old girl with symptoms such as urinary incontinence, recurrent urinary tract infections, peculiar facial expression, mainly when smiling, hypertelorism, constipation, incomplete closure of eyelids during sleep and splenomegaly. Homozygote mutations in two different genes responsible for two distinct syndromes were detected in the patient. Homozygous NM_000543.5:c.502G>A (p.Gly168Arg) mutation was found in the SMPD1 gene causing Niemann-Pick disease. In addition, some of the clinical features were due to a novel homozygous mutation identified in the HPSE2 gene, NM_021828.5:c.755delA (p.Lys252SerfsTer23). Conclusions Here, we discuss about the importance of considering dual diagnosis in societies where consanguineous marriages are common. Accurate diagnosis of the patient is very important for the management of the diseases and prevention of complications.

Niemann-Pick Disease Type C

2016 ◽  
Author(s):  
Frédéric Sedel
Keyword(s):  
Disease Type ◽  
Lipid Storage Disease ◽  
Niemann Pick Disease ◽  
Exact Function ◽  
Type C ◽  
Endosomal Transport ◽  
Vertical Supranuclear Gaze Palsy ◽  
Niemann Pick ◽  
Npc2 Gene ◽  
Pick Disease

Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids, and other molecules, but their exact function is still unknown. The clinical spectrum of the disease ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease characterized prominently by psychiatric disorders, cerebellar ataxia, cognitive decline, and vertical supranuclear gaze palsy. Miglustat is the only treatment approved to date which has been demonstrated to slow or halt disease progression.

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