Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 6-month-old female is described who presented with severe idiopathic macromastia. The breast enlargement began at 2 months of age and progressed such that subtotal mastectomies were necessary at 23 months. Extensive hormonal evaluation prior to surgery revealed no evidence of estrogenization or precocious puberty. There was no galactorrhea. A breast biopsy showed immature mammary tissue. In vitro analysis of the patient's serum using a mouse mammary thymidine incorporation assay revealed similar mitogenic activity in the patient's serum compared to adult controls. Post surgical follow up of this patient, 3.5 years later, has revealed no breast enlargement, precocious sexual development, or growth acceleration. Of interest, however, she has manifested an idiopathic degenerative neurologic condition characterized by psychomotor delay, ataxia, and seizures. Remarkably, hormone studies at age 5.5 years showed an exaggerated gonadotrophin response to intravenous gonadotrophin releasing hormone and prepubertal estrogen levels. While this case may represent an extraordinary example of idiopathic premature thelarche, the severe nature of this infant's macromastia in association with neurologic dysfunction and increased gonadotrophins suggests that central nervous system factors were etiologic.
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PMID:Massive breast enlargement in an infant girl with central nervous system dysfunction. 204 82

Two girls are described who had normal physical and mental development during the first few months of life, documented on home movies in one. Gross motor development slowed during the second half of the first year followed by loss of acquired vocabulary and deterioration of fine motor skills. Linear growth and head growth decelerated. Stereotyped hand movements appeared around 2 to 3 years of age. Early appropriate social responses faded into a vacant stare. Neurological development was characterized by early hypotonia followed by ataxia and finally spasticity. One girl has been followed through adolescence. Additional symptoms in later childhood and adolescence included scoliosis, episodes of hyperpnea, vasomotor disturbances of the legs, and precocious puberty. The patients fit the criteria for a progressive neurological disorder called Rett's syndrome, which results in profound developmental disability and occurs only in girls. Etiology remains unknown.
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PMID:Rett's syndrome: a progressive developmental disability in girls. 397 29

Pineal cysts occur in all ages, predominantly in adults in the fourth decade of life. In series of magnetic resonance imaging (MRI) studies, the prevalence of pineal cysts ranged between 1.3% and 4.3% of patients examined for various neurologic reasons and up to 10.8% of asymptomatic healthy volunteers. The diagnosis of pineal cyst is usually established by MRI with defined radiological criteria to distinguish benign pineal cyst from tumors of this area. A recent study demonstrated the findings obtained by transcranial sonography to correspond to those obtained by MRI in the detection of both pineal gland cyst and pineal gland itself, and could be used in the future mainly as follow up examination. Pineal cysts usually have no clinical implications and remain asymptomatic for years. The most common symptoms include headache, vertigo, visual and oculomotor disturbances, and obstructive hydrocephalus. Less frequently, patients present with ataxia, motor and sensory impairment, mental and emotional disturbances, epilepsy, circadian rhythm disturbances, hypothalamic dysfunction of precocious puberty, and recently described occurrence of secondary parkinsonism. Symptomatic cysts vary in size from 7 mm to 45 mm, whereas asymptomatic cysts are usually less than 10 mm in diameter, although a relationship between the cyst size and the onset of symptoms has been proved to be irrelevant in many cases. There is agreement that surgical intervention should be undertaken in patients presenting with hydrocephalus, progression of neurologic symptoms, or cyst enlargement. Tissue sample of the pineal lesion can be obtained by open surgery, stereotaxy and neuroendoscopy.
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PMID:Pineal gland cysts--an overview. 2005 63

Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. We report a rare case of a girl with genetically confirmed Williams syndrome and coexisting 15q duplication syndrome. The patient underwent treatment for central precocious puberty and later presented with primary amenorrhea. The karyotype revealed 47,XX,+mar. FISH analysis for the marker chromosome showed partial trisomy/tetrasomy for proximal chromosome 15q (15p13q13). FISH using an ELN-specific probe demonstrated a deletion in the Williams syndrome critical region in 7q11.23. To our knowledge, a coexistence of Williams syndrome and 15q duplication syndrome has not been reported in the literature. Our patient had early pubertal development, which has been described in some patients with Williams syndrome. However, years later after discontinuing gonadotropin-releasing hormone analogue treatment, she developed primary amenorrhea.
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PMID:Williams Syndrome and 15q Duplication: Coincidence versus Association. 2823 84