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Paediatria Croatica, Vol. 56 No. 4, 2013.

Stručni rad

MYOPATHIC CHANGES IN MUSCLE BIOPSY OF A PATIENT WITH INFANTILE SYSTEMIC HYALINOSIS

Erhan Bayram ; Dokuz Eylul University Hospital, Department of Pediatrics, Division of Pediatric Neurology, Balcova, Izmir, Turkey
Yasemin Topcu ; Dokuz Eylul University Hospital, Department of Pediatrics, Division of Pediatric Neurology, Balcova, Izmir, Turkey
Pakize Karakaya ; Dokuz Eylul University Hospital, Department of Pediatrics, Division of Pediatric Neurology, Balcova, Izmir, Turkey
Canan Firat ; Dokuz Eylul University Hospital, Department of Pathology, Balcova, Izmir, Turkey
Uluc Yis ; Dokuz Eylul University Hospital, Department of Pediatrics, Division of Pediatric Neurology, Balcova, Izmir, Turkey
Erdener Ozer ; Dokuz Eylul University Hospital, Department of Pathology, Balcova, Izmir, Turkey
Semra Hiz Kurul ; Dokuz Eylul University Hospital, Department of Pediatrics, Division of Pediatric Neurology, Balcova, Izmir, Turkey

Sažetak

Infantile systemic hyalinosis is an autosomal recessive disorder characterized by congenital progressive joint contractures, facial dysmorphism, erythematous and papular rash, perianal nodules and protein-losing enteropathy. Clinical onset of the disease is usually within the first few weeks of life. Hyaline deposits are seen in the skin, gastrointestinal system and other visceral organs. A 10-month-old girl was admitted for progressive joint contractures, diarrhea and failure to thrive. She had erythematous rash under her neck, around the ears and nape. There were tiny and pearly red papules on her face. Thickening of the skin, hyperpigmentation over buttocks and hyperpigmented perianal nodules were also apparent. Although she had normal creatine kinase activity and electromyography findings, muscle biopsy showed mild myopathic changes including fiber size variation. There are few reports describing muscular involvement in infantile systemic hyalinosis. Here we present an infant with infantile systemic hyalinosis who had proximal muscle weakness and myopathic changes on muscle biopsy.

Ključne riječi

Descriptors: HYALINOSIS, SYSTEMIC – diagnosis; JOINT CAPSULE RELEASE; MYOPATHY; INFANT; BIOPSY

Hrčak ID:

98779

URI

https://hrcak.srce.hr/98779

Datum izdavanja:

16.12.2012.

Podaci na drugim jezicima: hrvatski

Posjeta: 1.022 *