01 June 2002
Clinical, morphological, morphometric and ultrastructural
features of Congenital Fiber -Type Disproportion (CFTD) – analysis of two cases
Maciej Kajor, Elżbieta Marszał, Katarzyna Wojaczyńska-Stanek, Krzysztof Jasik
Case Rep Clin Pract Rev 2002; 3(2):108-112 :: ID: 474546
Abstract
Background: Congenital fiber-type disproportion (CFTD) was first described by Brooke in 1973. CFTD does not seem to be a single pathological entity. Clinical manifestations of CFTD range from mild hypotonia of the
lower limbs to severe respiratory disturbances leading to premature death. The paper presents two children hospitalized due to muscle weakness, facial hypokinesia, rhinolalia, hyperlordosis and inability to close the eyes tightly.
Case Report: Two described children were examined neurologically and the following tests were performed: biochemical analysis of blood, muscle enzyme assay, urinalysis, electromyography and a neuromuscular conduction
test. The quadriceps muscle was biopsied for histological and histochemical examination. The following histochemical stainings were performed: Mallory’s trichrome, succinate dehydrogenase, diaphorase, alkaline and acid ATP-ases, PAS-diastase (glycogen) and Oil red O (lipid). Morphometric analysis was performed by means of a VIDS IV (AMS Cambridge) computerized video image analyzer. Laboratory tests and electromyographic and ultrastructural evaluation of muscle did not reveal any abnormalities. Based on the results of histoenzymatic and morphometric analysis of muscle, we diagnosed mild and progressive variants of congenital fiber-type disproportion (CFTD).
Conclusions: Despite the histopathological, histoenzymatic and ultrastructural images in CFTD myopathy, clinical manifestations may be diametrically different.
Keywords: congenital fiber-type disproportion, myopathy, childhood
19
In Press
12 Feb 2024 : Case report
Erdheim-Chester Disease Occult on Radiographs and CT but Visible on MRI and PETAm J Case Rep In Press; DOI: 10.12659/AJCR.941169
12 Feb 2024 : Case report
Surgical Treatment of Spontaneous Superficial Temporal Artery Arteriovenous Malformation: A Case ReportAm J Case Rep In Press; DOI: 10.12659/AJCR.942839
13 Feb 2024 : Case report
Warfarin Woes: A Rare Case of Hemoperitoneum with Intramural Small Bowel HematomaAm J Case Rep In Press; DOI: 10.12659/AJCR.943519
13 Feb 2024 : Case report
Hemorrhagic Presentation in Primary Central Nervous System Lymphoma: A Case StudyAm J Case Rep In Press; DOI: 10.12659/AJCR.942951
Most Viewed Current Articles
07 Mar 2024 : Case report
Neurocysticercosis Presenting as Migraine in the United StatesDOI :10.12659/AJCR.943133
Am J Case Rep 2024; 25:e943133
10 Jan 2022 : Case report
A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...DOI :10.12659/AJCR.935263
Am J Case Rep 2022; 23:e935263
19 Jul 2022 : Case report
Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19DOI :10.12659/AJCR.936128
Am J Case Rep 2022; 23:e936128
23 Feb 2022 : Case report
Penile Necrosis Associated with Local Intravenous Injection of CocaineDOI :10.12659/AJCR.935250
Am J Case Rep 2022; 23:e935250