"Case Report" search results...

This article reports the first description of all six diagnosed acid sphingomyelinase deficiency cases in Hungary.

CTX

Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia

2023-03-07

This report discusses the case of a middle-aged Cerebrotendinous Xanthomatosis (CTX) patient with an unusual phenotype of behavioral variant frontotemporal dementia (bvFTD).

GAUCHER

Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene

2023-01-01

This report provides the precious experience of the clinical presentation of perinatal lethal Gaucher disease (PLGD) and advice on reproductive medicine for the next pregnancy in a couple.

CTX

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report

2022-10-16

This study reports the clinical, biochemical, and molecular characterization of a 33-year-old female patient with cerebrotendinous xanthomatosis.

NIEMANN-PICK

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome

2022-09-16

This article reports a case of Niemann Pick disease type B with sea-blue histiocytes that was misdiagnosed as Budd-Chiari syndrome for three years.

CLN2

Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2

2022-08-31

This article reports a rare case of neuronal ceroid lipofuscinosis type 2 (CLN2) caused by two novel variants of TPP1.

MPS

Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report

2022-08-16

This case report demonstrates that tuberculosis and mucopolysaccharidosis type I S can be treated simultaneously without serious adverse effects.

NIEMANN-PICK

Niemann-Pick type A disease with new mutation: A case report

2022-07-27

This presentation describes a 1-year-old boy with neurodevelopmental delay, hepatosplenomegaly, and severe hypotonia.

GAUCHER

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report

2022-05-12

This report highlights the necessity of screening the Tunisian population for the rare p.Arg87Trp variant.

CTX

A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene

2022-05-01

This case report emphasizes the necessity of keeping a high index of suspicion as the key to a timely diagnosis of cerebrotendinous xanthomatosis (CTX), which has a clinical diversity and, if detected early, the favorable treatment response.

NMDS

Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report

2022-04-08

The results of this study broaden the genotypic range of ANO5 disease and support the diagnostic value of next-generation sequencing in individuals with limb girdle muscular dystrophy.

POMPE

Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease)

2022-03-21

Mutational analysis of GAA and muscle biopsy are crucial in the diagnosis of Pompe disease.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

ASMD

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

CTX

Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia

GAUCHER

Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene

CTX

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report

NIEMANN-PICK

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome

CLN2

Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2

MPS

Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report

NIEMANN-PICK

Niemann-Pick type A disease with new mutation: A case report

GAUCHER

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report

CTX

A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene

NMDS

Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report

POMPE

Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease)

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