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Familial megaconial myopathy: A real nosologic entity (1983)

Pellegrini, G. ; Moggio, M. ; Cheldi, A. ; [et al.]

Springer

Acta neuropathologica 59 (1983), S. 70-74

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ISSN: 1432-0533

Keywords: Mitochondrial myopathy ; Giant mitochondria ; Familial mitochondrial myopathy

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Summary The most prominent ultrastructural feature of muscle tissue in two siblings with a childhood-onset myopathy was the presence of giant mitochondria of up to 4 μm in length. The mitochondria had no tendency to aggregate and kept their normal localization among the myofibrils. Such a megaconial myopathy was first described by Shy and Gonatas (1964), In our family two members had the disease and consanguinity between their parents was present. These data suggest that megaconial myopathy might be a real nosologic entity genetically transmitted as an autosomal recessive trait.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00690319

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Corticosterone methyl oxidase type II deficiency: a cause of failure to thrive and recurrent dehydration in early infancy (1992)

Picco, P. ; Garibaldi, L. ; Cotellessa, M. ; [et al.]

Springer

European journal of pediatrics 151 (1992), S. 170-173

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ISSN: 1432-1076

Keywords: Corticosterone methyl oxidase type II ; Failure to thrive ; Salt wasting

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Corticosterone methyl oxidase type II (CMO II) deficiency is an uncommon cause of salt-wasting in infancy. We describe a boy who presented with recurrent dehydration and severe failure to thrive in the first 3 months of life, associated with mild hyponatraemia (serum Na+ 127–132 mEq/l) and hyperkalaemia (serum K+ 5.3–5.9 mEq/l). The diagnosis was suggested by an elevated plasma renin activity (PRA): serum aldosterone ratio, and subsequently confirmed by an elevated serum 18-hydroxycorticosterone: aldosterone ratio. Treatment with 9α-fluorohydroxycortisone normalized growth parameters and PRA levels. CMO II deficiency should be considered in infants with recurrent dehydration and failure to thrive, even when serum sodium and potassium levels are not strikingly abnormal.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF01954376

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Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance (1993)

DiRocco, M. ; Garibotto, G. ; Rossi, G. A. ; [et al.]

Springer

European journal of pediatrics 152 (1993), S. 437-440

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ISSN: 1432-1076

Keywords: Lysinuric protein intolerance ; Erythroblastophagocytosis ; Interstitial lung disease ; Renal disease

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Three patients with lysinuric protein intolerance are reported. The first patient displayed severe haemolytic anaemia, bone marrow erythroblastophagocytosis, renal tubular disease and interstitial lung disease. Despite treatment with citrulline and low-protein diet, this child died at the age of 18 months. The second patient is now 24 years old and has chronic interstitial lung disease and focal renal glomerulosclerosis. The third patient, now 5 years old, has severe chronic interstitial lung disease. A 6-month treatment with prednisone was ineffective in the second and third patients.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF01955906

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