osteopetrosis/астения

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Disabling Osteopetrosis in an Young Lady.

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Osteopetrosis is a rare disorder of osteoclastic bone resorption leading to hyperostosis. Albers-Schonberg disease, an autosomal dominant variant of osteopetrosis occurs in young adults and has a benign course. A 17 year old female presented with generalized weakness and pallor for last two months.

[Osteopetrosis: diagnostic and therapeutic management. Apropos of 5 cases].

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OBJECTIVE The purpose of this study was to analyse 5 cases of osteopetrosis: 2 dominant and 3 recessive forms. METHODS Among five cases of children suffering from osteopetrosis. There were three malignant and two benign forms. Three children affected by malignant form, received a bone marrow

Numb chin with mandibular pain or masticatory weakness as indicator for systemic malignancy - A case series study.

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OBJECTIVE Numb chin syndrome (NCS) is a critical sign of systemic malignancy; however it remains largely unknown by clinicians and dentists. The aim of this study was to investigate NCS that is more often associated with metastatic cancers than with benign diseases. METHODS Sixteen patients with NCS

Late-onset Visual Loss in Osteopetrosis.

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Late-onset visual loss is a complication of nerve entrapment and increased intracranial pressure. We hereby describe the first case in Eastern Africa. A 23 year-old lady presented with sudden blindness, headaches and body weakness. She had previously had treatment for multiple unexplained fractures.

Paralysis Episodes in Carbonic Anhydrase II Deficiency.

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Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder manifest by osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include growth failure and mental retardation. Complications of the osteopetrosis include frequent bone fractures, cranial nerve

Sclerosing bone disorders.

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Sclerosing bone disorders are a diagnostic challenge. However, hereditary sclerosing disorders often have characteristic radiological features that allow their diagnosis. Osteocondensation can result from decreased bone resorption; malignant recessive osteopetroses have been related to mutations in

Carbonic anhydrase II deficiency.

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Carbonic anhydrase (CA) isoenzyme II deficiency--formerly called the syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification--is an autosomal recessive "inborn error of metabolism" that has disclosed important insight concerning osteoclast function. Nearly 50 cases have been

Carbonic anhydrase II deficiency in three unrelated Japanese patients.

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Three Japanese patients with carbonic anhydrase II (CAII) deficiency from three families were described. The parents of one patient were unrelated, the parents of each of the other two patients were first cousins. All the patients had renal tubular acidosis, osteopetrosis, symmetrical cerebral

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