Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study.
Arab J Gastroenterol
; 15(2): 63-7, 2014 Jun.
Article
em En
| MEDLINE
| ID: mdl-25097048
ABSTRACT
BACKGROUND AND STUDY AIMS:
Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency of glycogen debrancher enzyme and is characterised by clinical variability. PATIENTS ANDMETHODS:
We herein describe the clinical and laboratory findings in 31 Egyptian patients with GSD III presenting to the Paediatric Hepatology Unit, Cairo University, Egypt.RESULTS:
Eighteen patients (58%) were males. Their ages ranged between 6 months to 12 years. The main presenting complaint was progressive abdominal distention in 55%. Twelve patients (38.7%) had a history of recurrent attacks of convulsions; four had an erroneous diagnosis of hypocalcaemia and epilepsy. Doll-like facies was noted in 90%. Abdominal examination of all cases revealed abdominal distention and soft hepatomegaly which had bright echogenicity by ultrasound. Hypertriglyceridaemia was present in 93.6%, hyperlactacidaemia in 51.6% and hyperuricaemia in 19.4%. Liver biopsy showed markedly distended hepatocytes with well distinct cytoplasmic boundaries and 32% had macrovesicular fatty changes. Serum creatine kinase was elevated in 64.6% of patients and correlated positively and significantly with age (r=0.7 and P=<0.001), while serum triglycerides correlated negatively with age (r=-0.4 and P=0.05).CONCLUSION:
Blood glucose assessment and search for hepatomegaly in an infant with recurrent seizures may prevent delay in the diagnosis. A huge soft liver reaching the left midclavicular line that appears echogenic on ultrasonography is characteristic of GSD III. A distended hepatocyte with rarified cytoplasm is pathognomonic but not diagnostic. Hypertriglyceridaemia correlates negatively with age, in contrary to CK level.Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Ascite
/
Convulsões
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Doença de Depósito de Glicogênio Tipo III
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Hepatomegalia
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Observational_studies
Limite:
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
País/Região como assunto:
Africa
Idioma:
En
Revista:
Arab J Gastroenterol
Ano de publicação:
2014
Tipo de documento:
Article