Bilateral diffuse hypoperfusion of posterior temporoparietals and occipitals in Tc-99m HMPAO brain SPECT in a patient with noncommunicating hydrocephalus

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Title:	Bilateral diffuse hypoperfusion of posterior temporoparietals and occipitals in Tc-99m HMPAO brain SPECT in a patient with noncommunicating hydrocephalus
Authors:	Shih, WJ;Tsai, CH;Stipp, V;Lu, G
Contributors:	附設醫院;UNIV KENTUCKY,MED CTR,LEXINGTON,KY;CHINA MED COLL HOSP,TAICHUNG,TAIWAN;PEPING UNION MED COLL HOSP,BEIJING,PEOPLES R CHINA
Date:	1996
Issue Date:	2010-09-24 14:16:26 (UTC+8)
Publisher:	LIPPINCOTT-RAVEN PUBL
Abstract:	We report a baby boy, the third child of a nonconsanguineous couple, with congenital myotubular myopathy. At birth, he had generalized hypotonia and respiratory distress. On physical examination, an elongated apathetic face, high-arched palate, bilateral ptosis, funnel chest, frog-leg posture, little spontaneous movement of the limbs and areflexia were observed. A chest x-ray revealed thin ribs and clavicles. The infant died 54 days after birth despite intensive management. The mother, a healthy 32-year-old female, displayed myotubes on muscle biopsy which suggested an X-linked recessive inheritance pattern for myotubular myopathy. This report illustrates the importance of taking a detailed family history as well as a muscle biopsy in the diagnosis of X-linked recessive myotubular myopathy.
Relation:	CLINICAL NUCLEAR MEDICINE 21(3):252-255
Appears in Collections:	[China Medical University Hospital] Jurnal articles

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