Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied a case of Fahr's disease type idiopathic intracerebral calcification (Fahr's disease) associated with juvenile rheumatoid arthritis. The patient was a 15-year-old male with a chief complaint of gait disturbance. His family members had no similar signs and symptoms. His parents had no consanguinity. He was born with the normal perinatal course at 1967. He had repeated episodes of convulsive attacks during fever elevation from 2 years and 8 months to 9 years of age. Morning stiffness of bilateral hands, and pernio in the auricles, fingers, planta, and toes had occurred in every winter, since 6 years old. Swelling and pain of the bilateral knee and foot joints appeared, making ambulation difficult in 1983 (15 years old), and the patient was admitted to our hospital in July, the same year. On admission, congenital anomalies such as epicanthus and high-arched palate were noted, and swelling, deformation and contracture of limb joints, and Raynaud phenomenon were shown. His ocular fundus showed no arteriosclerotic change. He didn't have Albright's sign. Mild mental retardation and bilateral pyramidal tract signs were noted, but extrapyramidal tract and cerebellar signs, and sensory disturbance were absent. Laboratory findings exhibited markedly elevated ESR, positive CRP, RA, and antinuclear antibody. The levels of serum Ca, P, alkaline phosphatase and parathyroid hormone were normal. Peripheral blood study showed microcytic and hypochromic anemia. Anti-DNA antibody was negative. Ellsworth-Howard test was positive. Elevated antibody titer to toxoplasma, rubella virus, herpes simplex virus and cytomegalovirus were not proven. He had no chromosomal change.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of Fahr's disease associated with juvenile rheumatoid arthritis]. 179

Fahr's disease (FD) is a rare clinical neurodegenerative entity, occurring in fourth or fifth decade or elderly patients, consisting in symmetric polytopic calcifications, in one ore more of the following areas: basal ganglia, cerebral white matter, thalami, internal capsulae, cerebellum, which can lead to pyramidal, extrapyramidal, cerebellar symptoms, alteration of sensitive perception and psychiatric manifestations. The purpose of this paper is to present the FD-diagnosis with unknown family history of disease, based on calcification pattern, symptomatology and lab tests. A three years retrospective study was effectuated on 1942 patients, aged between 20 and 96-year-old, presenting neurological and psychiatric symptoms, which required differential diagnosis with FD. All the patients were evaluated by CT-scans and levels of serum calcium and alkaline phosphatase were measured in cases with cerebral calcification, in order to exclude abnormal calcium-phosphorus metabolism. Cerebral and cerebellar calcification were found in 176 cases, seven cases presenting a calcification pattern suggestive for FD and in six from the seven cases a positive diagnosis of FD was established.
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PMID:Fahr's syndrome: diagnosis issues in patients with unknown family history of disease. 1969 Jul 69