PG - 93-8 AB - A four-year-old boy presented with hepatomegaly, vacuolized granulocytes (Jordans' anomaly) and slightly progressive myopathy as signs of multisystem triglyceride storage disease. [pubtransformer.com]

[…] liver steatosis with hepatomegaly (variable) Genetics autosomal recessive associated with defects in ABHD5 gene Clinical-manifestations non- bullous congenital ichtyosiform erythroderma phenotype involves multiple organs and systems ichthyosis is always present [anvita.info]

Presentation in infancy In general, patients with type 1 Gaucher disease who present in childhood tend to have more pronounced visceral and bony disease manifestations than those who present in adulthood. [10] Patients with type 1 Gaucher disease can [emedicine.medscape.com]

Ichthyosis is always present, and liver steatosis with hepatomegaly, muscle weakness, ataxia, neurosensory hearing loss, subcapsular cataracts, nystagmus, strabismus, and mental retardation are sometimes present. [link.springer.com]

Occasionally diabetes or cardiovascular complications may be present. [mgz-muenchen.de]

• Vomiting

  We report a case of Dorfman-Chanarin syndrome in a four-year-old girl who had generalized ichthyosis since birth and abdominal distension and episodic vomiting since two months of age. [ijdvl.com]

  Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands. [icd10data.com]

  Clinical features become apparent in the first week of life and include failure to thrive, relentless vomiting, abdominal distention, and hepatosplenomegaly. Multiple sulfatase deficiency is typically diagnosed in infancy and childhood. [emedicine.medscape.com]

• Eczema

  Other signs of ichthyosis are: Skin redness Blisters Peeling Itchiness Pain Lines on the palms of the hands and soles of the feet Tight skin that makes it hard to move Many people with ichthyosis also have eczema, a red, itchy rash. [webmd.com]

  Ichthyosis vulgaris The skin may appear normal at birth By the age of 5, the skin is dry with fine white scale Affects abdomen, arms and legs, sparing creases of arms and legs Causes keratosis pilaris Palms are excessively lined Associated with atopic eczema [dermnetnz.org]

  Patient 4 was originally referred to our institution for evaluation of recurrent upper respiratory infections and childhood eczema. [documents.tips]

• Hearing Impairment

  impairment Sudden cardiac death Vestibular dysfunction Progressive sensorineural hearing impairment Lactic acidosis Acidosis Failure to thrive Growth delay Microcephaly Hypoplasia of the corpus callosum Progressive hearing impairment Apnea Goiter Feeding [mendelian.co]

  No history of ocular complaints, hearing impairment or gait abnormality was reported. She was the second child and was born at full term by normal delivery to non-consanguineous parents. [ijdvl.com]

Results of laboratory workup were as follows: IgG, 820 mg/dl; IgA, 65 mg/dl; IgM, 90 mg/dl; IgE, 50 I.U. units/ml; C3, 128 mg/dl; CH50, 24.6 U/ml; all normal for age. [documents.tips]

• Hypertriglyceridemia

  Carnitine palmitoyltransferase I deficiency syndrome is char- acterized by muscle cramps, myoglobinuria, and hypertriglyceridemia [Bank et al, 19751. [documents.tips]

Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]

Treatments It can't be cured, but treatments can help you manage dry and scaly skin. Continued Rub cream, lotion, or ointment onto your skin every day to add moisture. [webmd.com]

Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder. [firstskinfoundation.org]

In our cohort, the prognosis for patients with NLSD type I appeared to be more severe than that for patients with NLSD type M. [ojrd.biomedcentral.com]

(Neutral Lipid Storage Type)~Dorfman Chanarin Syndrome~Ichthyosiform Erythroderma with Leukocyte Vacuolation~Ichthyotic Neutral Lipid Storage Disease~Neutral Lipid Storage Disease~Triglyceride Storage Disease Impaired Long-Chain Fatty Acid Oxidation Etiology [pediascape.org]

Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy. Prog Pediatr Cardiol 2007; 24(1): 15–25. CrossRef PubMed Google Scholar Kollberg et al. [link.springer.com]

Ichthyosiform Syndromes: Comparison to Ichthyosis and Neutral Lipid Storage Syndrome Syndrome Ichthyosis Eye Deafness CNS Other Etiology Inheritance This syndrome Congenital Cataracts, retinal Neurosensory Occ: Ataxia, Lipid droplets in (?) [documents.tips]

From Epidemiology rare Pathology intracellular accumulation of triacylglycerol droplets in many types of tissues liver steatosis with hepatomegaly (variable) Genetics autosomal recessive associated with defects in ABHD5 gene Clinical-manifestations non [anvita.info]

Relevant External Links for PNPLA2 Genetic Association Database (GAD) PNPLA2 Human Genome Epidemiology (HuGE) Navigator PNPLA2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PNPLA2 No data available for Genatlas for PNPLA2 Gene The ATGL [genecards.org]

The aim of this registry is obviously to know the natural history, investigate the pathophysiology, and eventually develop specific treatments of the diseases. [tgcv.org]