Abstract Neutral lipid storage disease with myopathy (NLSDM) presents with skeletal muscle myopathy and severe dilated cardiomyopathy in nearly 40% of cases.[ncbi.nlm.nih.gov]
RESULTS: All eight patients presented with developmental delay or regression during late infancy and later developed epilepsy, mostly intractable generalized tonic seizures.[ncbi.nlm.nih.gov]
The present review focuses on current available evidence that supports the incremental value of STE in the diagnostic and prognostic workup of LVH.[ncbi.nlm.nih.gov]
Here we describe two different clinical presentations of this disease: one case with a clear phenotype of familial hypercholesterolaemia and one case with hepatosplenomegaly from childhood onwards.[ncbi.nlm.nih.gov]
Lipid storage myopathy can be clinically silent in childhood and presenting only with hyperCKemia. Copyright 2012 Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov]
These included coarse face, dysostosis multiplex, respiratory difficulty, proteinuria with glomerular foamy cells, neurological involvement with developmental delays, pyramidal signs, and severe chronic anemia.[ncbi.nlm.nih.gov]
The patient presented with nonimmune hydrops fetalis, dysmorphic facial features, hepatosplenomegaly, and dysostosis multiplex and died at 39 days of age due to persistent pulmonary hypertension.[ncbi.nlm.nih.gov]
Clinical features include coarse facial features, macular cherry-red spots, angiokeratomas, dysostosis multiplex, epilepsy, myoclonus, and ataxia.[emedicine.medscape.com]
Otorhinolaryngological manifestations: Combination of Eustachian dysfunction, dysostosis of the ossicles of middle ear and eighth nerve cause hearing loss in MPSs.[clinicaladvisor.com]
Herein, we report on the first Turkish family carrying the mutation p.Arg375Trp (fibrinogen Aguadilla) in the γ-chain of the fibrinogen (FGG) gene. Clinical, laboratory and histopathological findings of the patient were documented.[ncbi.nlm.nih.gov]
TPP1 ) Type 3 Batten–Spielmeyer–Vogt disease / juvenile NCL ( CLN3 ) Type 4 Kufs disease / adult NCL ( CLN4 ) Type 5 Finnish Variant / late infantile ( CLN5 ) Type 6 Late infantile variant ( CLN6 ) Type 7 CLN7 Type 8 Northern epilepsy ( CLN8 ) Type 8 Turkish[en.wikipedia.org]
Due to low awareness of this condition among physicians including surgical pathologists, majority of the liver biopsies, especially from the adults are often misdiagnosed as non-alcoholic fatty liver disease/non-alcoholic steatohepatitis or cryptogenic[ncbi.nlm.nih.gov]
Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication[invitae.com]
Here we describe two different clinical presentations of this disease: one case with a clear phenotype of familial hypercholesterolaemia and one case with hepatosplenomegaly from childhood onwards.[ncbi.nlm.nih.gov]
The patient gradually developed hepatosplenomegaly and pancytopenia. Abnormalities of bone marrow were similar to the sea-blue histiocyte syndrome.[ncbi.nlm.nih.gov]
The patient presented with nonimmune hydrops fetalis, dysmorphic facial features, hepatosplenomegaly, and dysostosis multiplex and died at 39 days of age due to persistent pulmonary hypertension.[ncbi.nlm.nih.gov]
Case report A 16 month old boy presented with hepatosplenomegaly and hypotonia. 8 The combination of hepatosplenomegaly, disturbed muscle function, and the histological finding of cirrhosis and glycogen storage in the liver led to a diagnosis of GSD IV[adc.bmj.com]
They may have unusual facial features that are often described as "coarse," seizures, bone malformations, an enlarged liver and spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly).[ghr.nlm.nih.gov]
The mutation γ375Arg Trp (fibrinogen Aguadilla) is one of four mutations (Brescia, Aguadilla, Angers, and AI duPont) capable of causing hepatic storage of fibrinogen.[ncbi.nlm.nih.gov]
Genetic etiology of congenital/infantile nystagmus remains largely unknown. This study aimed to identify genomic mutations in patients with infantile nystagmus and an associated disease network.[ncbi.nlm.nih.gov]
The most common form of sialic acid storage disease is the slowly progressive Salla disease, presenting with hypotonia, ataxia, epilepsy, nystagmus and findings of cerebral and cerebellar atrophy.[ncbi.nlm.nih.gov]
Mutations in AP5Z1, encoding a subunit of the AP-5 complex, have been reported to cause hereditary spasticparaplegia (HSP), although their impact at the cellular level has not been assessed.[ncbi.nlm.nih.gov]
paraplegia Familial dystonia, paroxysmal dystonia Familial ataxias Familial Alzheimer's disease Charcot Marie Tooth disease Wilson’s disease Mitochondrial encephalomyopathies Genetic Epilepsy Syndromes We are currently involved in enzyme replacement[stjosephshealth.org]
The present review focuses on current available evidence that supports the incremental value of STE in the diagnostic and prognostic workup of LVH.[ncbi.nlm.nih.gov]
The coexistence of hepatomegaly and hypoglycemia should prompt a workup that includes measurement of BG, lactate, uric acid, and hepatic profile including liver function studies, CK, plasma total and free carnitine, acylcarnitine profile, urinalysis,[nature.com]
However, due to the risks and exclusion criteria of this treatment additional therapies are required.[ncbi.nlm.nih.gov]
In conclusion, CMA impairment contributes to cell malfunction in cystinosis, highlighting the need for treatments complementary to current therapies that are based on decreasing lysosomal overload. 2015 The Authors.[ncbi.nlm.nih.gov]
CBZ at low anticonvulsive treatment levels led to rapid normalization of alanine-aminotransferase and decrease of caspase-cleaved and uncleaved cytokeratin-18 fragments (M30 and M65). These effects reversed after discontinuation of treatment.[ncbi.nlm.nih.gov]
The majority of LSDs lack a curative treatment. This is particularly true for LSDs severely affecting the CNS.[ncbi.nlm.nih.gov]
Prognosis and treatment of glycogen storage diseases vary by type, but treatment typically includes dietary supplementation with cornstarch to provide a sustained source of glucose for the hepatic forms of GSD and exercise avoidance for the muscle forms[merckmanuals.com]
PrognosisPrognosis is unfavorable for patients with perinatal onset and classic forms who do not undergo liver transplantation. Long-term prognosis for others depends on the extent, severity, and progression of the condition.[orpha.net]
In patients with LVH, subclinical left ventricular (LV) dysfunction despite normal ejection fraction (EF) may be present before the onset of symptoms, which portends a dismal prognosis.[ncbi.nlm.nih.gov]
Prognosis The prognosis of GSD is highly varied. Overall, the long-term prognosis depends on the extent, severity, and progression of the disease. GSDs are generally multisystem diseases, with many potential complications.[encyclopedia.com]
Prognosis For NLSDI/Dorfman-Chanarin disease, the severity of the disease is linked to the myopathy and any associated disorders (which may include ocular and cerebral involvement).[orpha.net]
Prognosis is good; adult patients have normal stature and minimal hepatomegaly.[ommbid.mhmedical.com]
This case illustrates a rare etiology of storage disease that causes abnormal liver function tests.[ncbi.nlm.nih.gov]
Genetic etiology of congenital/infantile nystagmus remains largely unknown. This study aimed to identify genomic mutations in patients with infantile nystagmus and an associated disease network.[ncbi.nlm.nih.gov]
Etiology NLSDI/Dorfman-Chanarin disease is caused by mutations in the ABHD5 gene (3p21), NLSDM by mutations in the PNPLA2/ATGL gene (localized to 11p15.5).[orpha.net]
Etiology The disease is caused by mutations in the GBE1 gene (3p12) encoding GBE. GBE deficiency results in storage of abnormal glycogen that resembles an amylopectin-like structure (polyglucosan).[orpha.net]
Negative investigations for infection etiology, unbalanced chromosomal abnormalities and congenital major malformations (heart, kidneys and vascular system).[clinicaladvisor.com]
This report expands the epidemiology of FSD and demonstrates idiosyncrasy in response to oral carbamazepine and/or ursodeoxycholic acid in FSD.[ncbi.nlm.nih.gov]
Summary Epidemiology The group of diseases is very rare and the prevalence is unknown (around 50 cases have been reported in medical literature, of which 3 had NLSDM) because of the vagueness of the descriptions.[orpha.net]
GSD I is typically treated with frequent small meals of carbohydrates and cornstarch to prevent low blood sugar, while other treatments may include allopurinol and human granulocyte colony stimulating factor. [21] Epidemiology [ edit ] Overall, according[en.wikipedia.org]
"Epidemiology of lysosomal storage diseases: an overview". eMedicine Specialties Neurology Pediatric Neurology Lysosomal Storage Disease Author: Noah S Scheinfeld, MD, JD, FAAD. Coauthor(s): Rowena Emilia Tabamo, MD; Brian Klein, MD.[en.wikipedia.org]
Although the exact pathophysiology is not exactly the same, it is astounding how many similar pathways are altered in all of these diseases.[ncbi.nlm.nih.gov]
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Glycogen storage diseases (GSDs) are a group of inherited metabolic conditions caused by deficiency of enzymes responsible for[mayomedicallaboratories.com]
This may exacerbate subtle energy deficiency which has been discussed to play a pathophysiological role in glycogenoses [ 21 ],[ 22 ].[ojrd.biomedcentral.com]
Manifestations Although single gene defects typically result in substrate accumulation, the precise underlying pathophysiologic mechanisms that lead to clinical symptoms are not entirely clear.[emedicine.medscape.com]
Weinstein’s research lab, located at UConn Health , focuses on ways to prevent the complications of the disease—and on discovering a cure.[connecticutchildrens.org]
A drug commonly prescribed to prevent transplant rejection -- rapamycin -- stimulated autophagy and improved liver size and function in animal models.[sciencedaily.com]