farber lipogranulomatosis/seizures

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Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.

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BACKGROUND We report a boy with an unusually late presentation of Farber lipogranulomatosis type l. METHODS The first symptoms appeared at the end of the first year of life in the form of joint swelling; other symptoms such as cherry-red spot, hoarseness, subcutaneous nodules appeared much later.

Acid ceramidase deficiency: Farber disease and SMA-PME.

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Acid ceramidase (ACDase) deficiency is a spectrum of disorders that includes a rare lysosomal storage disorder called Farber disease (FD) and a rare epileptic disorder called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Both disorders are caused by mutations in the ASAH1

Farber's disease (lysosomal acid ceramidase deficiency).

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The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibroblasts.

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

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ASAH1 gene encodes for acid ceramidase that is involved in the degradation of ceramide into sphingosine and free fatty acids within lysosomes. ASAH1 variants cause both the severe and early-onset Farber disease and rare cases of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy

Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1.

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Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a rare disorder caused by mutation in the ASAH1 gene, is characterized by progressive muscle weakness and intractable epilepsy. The literature about SMA-PME is very rare and most of the time limited to case reports. Mutation in

[A case report of childhood Farber's disease and literature review].

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Objective: To explore the clinical features, diagnosis, treatment and the prognosis of Farber disease by case report and literature review. Method: The clinical information of a case with farber's disease diagnosed in October 2015 at Peking University First Hospital was collected and analyzed,

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