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Rare causes of short stature seen in one patient each (1%) included Turner Syndrome, premature ovarian failure, achondroplasia, primary adrenal insufficiency, central adrenal insufficiency, central hypothyroidism and lipid storage disease.
The four main genetic causes of LSM are multiple acyl-coenzyme A dehydrogenase deficiency (MADD, OMIM 231680), primary carnitine deficiency (OMIM 212140), neutral lipid storage disease with myopathy (OMIM 610717), and neutral lipid storage disease with ichthyosis (OMIM 25630).
INTRODUCTION: Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease first described in 1937 by van Bogaert et al (1) In 1974, Setoguchi et al.
Abstract Neutral lipid storage disease is a rare autosomal recessive disorder characterized by non-bullous ichthyosiform erythroderma liver steatosis hepatosplenomegaly cataracts ataxia bilateral sensorineural hearing loss skeletal and cardiomyopathy growth and mental retardation.
In conclusion, although CDS is a rare lipid storage disease, it should always be a consideration in patients with congenital ichthyosis, especially those with extracutaneous symptoms or signs.
The traditional view that atherosclerosis is simply a lipid storage disease has recently been challenged by evidence that inflammation plays a central role in all stages of atherosclerosis.
The E3/E3[DELTA]149Leu mutation negatively affects apoE function, and carriers develop signs and symptoms of a lipid storage disease.
The exogenous type is more common and associated with aspiration or inhalation of fatty substances, whereas the endogenous type usually occurs as secondary bronchial obstruction caused by tumors, bacterial infections, bronchiolitis obliterans, and lipid storage diseases [3-5].
Lipid storage diseases were diagnosed by the specific histiocytes in the biopsy specimen.