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]

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

Clinical presentation includes accumulation of long chain triglycerides and ichtiosis. Systematic References: 1. [moldiag.com]

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

• Recurrent Upper Respiratory Infection

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

• Recurrent Otitis Media

  Because of recurrent otitis media, diarrhea, and an eczematous rash, she was referred to us for immunological evaluation at age 9 months. [documents.tips]

• Palpable Spleen

  At that time she had a cloudy left tympanic membrane, absence of the retinal red reflex, and a palpable spleen tip. [documents.tips]

• Clay-Colored Stool

  There was no history of any feeding difficulties, jaundice, dark urine, or clay-colored stools. There was no history of visual loss, abnormal ocular movements, or hearing defects. There was no limb weakness or any focal neurodeficits. [ijpmonline.org]

  However, there was no history of difficulty in feeding, icterus, dark-colored urine or clay-colored stools. No history of ocular complaints, hearing impairment or gait abnormality was reported. [ijdvl.com]

• Diastolic Murmur

  A grade II/ VI blowing diastolic murmur along the left sternal border consistent with aortic regurgitation had been present for several years and was asymptomatic., Pt.1, d l 3 a 1 2 6 s Pt.2 Pt.3 Pt.4 V Fig. 1. Pedigree. [documents.tips]

• Ejection Murmur

  A grade UVI systolic ejection murmur was noted on cardiac examination. He had a mild generalized ichthyosiform erythroderma, identical to that of his father and 2 sibs. [documents.tips]

• Systolic Murmur

  A grade UVI systolic ejection murmur was noted on cardiac examination. He had a mild generalized ichthyosiform erythroderma, identical to that of his father and 2 sibs. [documents.tips]

• Lordosis

  Mild lordosis was evident, but no Gower sign was elicited. Gait was normal, b i t she had some difficulty with heel walking. Sensory system, cerebel- lar function and Jeep tendon reflexes were normal. [documents.tips]

• 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]

• Hypoplastic Nails

  nails, sulfur matrix abnormal dentition, protein in hair brittle hair and nails Keratitis, Atypical Keratitis Neurosensory Occ: Mental Tight heel cords Unknown ichthyosis, ichthyosiform retardation deafness ervthroderma Ichthyosis and Neutral Lipid Storage [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]

• Mild Facial Weakness

  Neurologic examination showed strabismus and mild facial weakness, evidenced by a long, flat philtrum, decreased facial expression and lid weakness. Muscle mass and tone appeared to be normal. [documents.tips]

• Dark Urine

  There was no history of any feeding difficulties, jaundice, dark urine, or clay-colored stools. There was no history of visual loss, abnormal ocular movements, or hearing defects. There was no limb weakness or any focal neurodeficits. [ijpmonline.org]

• Cranial Nerve Involvement

  nerve involvement, mental retardation, and psychiatric disorders. [2], [7], [11], [12] Hemangiomas, splenomegaly, neural tumors of the mediastinum, microcephaly, small ears, rickets, renal involvement, and eccrine gland vacuolations have also been rarely [ijpmonline.org]

• Gowers Sign

  Mild lordosis was evident, but no Gower sign was elicited. Gait was normal, b i t she had some difficulty with heel walking. Sensory system, cerebel- lar function and Jeep tendon reflexes were normal. [documents.tips]

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]

• Glycosuria

  Abnormal TCK Severe t N 9 + + 1 Abnormal Abnormal tN 10 + + 1 Abnormal Abnormal TCK Severe t N fatty change 11 + + 1 Abnormal TCK TN 12 + + 1 13 + + 1 14 + + 1 N tCK tCK TCK Cataracts, + Diabetes mellitus, retinal TCSF protein, dysfunction Abnormal ECG N + Glycosuria [documents.tips]

  Mild hyperglycaemia and/or glycosuria were found in 4/15 NLSD-M and 1/6 NLDS-I patients. [ojrd.biomedcentral.com]

• Erythroblast

  Similar lipid vacuoles are seen in erythroblasts, reticulocytes, tissue macrophages and plasma cells, but not in mature red blood cells, and only rarely in peripheral blood lymphocytes [Slavin et al, 19751. [documents.tips]

• Liver Biopsy

  Skin biopsy showed hyperkeratosis with a diminished granular cell layer suggestive of ichthyosis vulgaris. Liver biopsy revealed micronodular cirrhosis with macrovesicular steatosis [Figure 4]. [ijpmonline.org]

  Enlargement of liver and elevation of liver enzymes indicate presence of fatty change which was later confirmed by ultrasonography and liver biopsy. [ijdvl.com]

  Liver biopsy showed micronodular cirrhosis along with macrovesicular hepatic steatosis. [jpgmonline.com]

  Liver. All four patients who have undergone liver biopsy have shown severe fatty metamorphosis, whereas liver function tests were normal or documented exhib- ited only minimal elevation of liver enzymes. Gastrointestinal tract. [documents.tips]

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]

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]

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]

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]

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]

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]

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]