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

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.

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A SYNDROME OF RECURRENT INFECTION AND INFILTRATION OF VISCERA BY PIGMENTED LIPID HISTIOCYTES

PEDIATRICS ◽

10.1542/peds.20.3.431 ◽

1957 ◽

Vol 20 (3) ◽

pp. 431-438

Author(s):

Benjamin H. Landing ◽

Harry S. Shirkey

Keyword(s):

Gamma Globulin ◽

White Male ◽

Recurrent Infection ◽

Brown Pigment ◽

Susceptibility To Infection ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Repeated Infections ◽

Genetically Determined ◽

Pick Disease

The clinical and pathologic findings in two white male children with repeated infections, including lymphadenitis, aphthous stomatitis, enteritis, pneumonitis, osteomyelities, etc. are described. Tissue removed at laparotomy in one patient, and at necropsy in the other, showed infiltration of organs by lipid histiocytes containing yellow-brown pigment. Although the histochemical properties of the cells show similarities to the lipid histiocytes of Niemann-Pick disease, the condition described is considered to differ from other forms of lipid histiocytosis, as well as from other conditions producing susceptibility to infection. Concentrations of gamma-globulin in the serum of one of the patients were elevated, but whether the globulin is functionally effective is not known. The onset of symptoms in early infancy suggests that the disorder is genetically determined rather than acquired, but no evidence of familial occurrence has been obtained.

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

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2020-0367 ◽

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.

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

BMJ Case Reports ◽

10.1136/bcr-2020-239630 ◽

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.

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