macroglossia/povraćanje

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Beckwith-Wiedemann syndrome, delayed abdominal wall closure, and neonatal intussusception--case report and literature review.

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We present the extremely rare case of a male newborn with Beckwith-Wiedemann Syndrome (BWS) presenting as delayed abdominal wall closure and neonatal intussusception. Fetal ultrasound had shown omphalocele that resolved spontaneously. When feeding was attempted, he had various episodes of vomiting.

[Diagnosis of gastrointestinal amyloidosis with special reference to the relationship with amyloid fibril protein].

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Forty-five patients with proved gastrointestinal amyloidosis were examined to study the clinical and pathological features and to determine the correlation with amyloid fibril proteins. The examinations included physical examination, laboratory study, plain X-ray film of the abdomen,

[CNS disorders caused by metabolic disorders].

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A guideline for early diagnosis of metabolic disorders affecting central nervous system during neonatal and early infancy was presented. Clinical manifestations associated with inborn errors of metabolism in the neonatal period are poor feeding, vomiting, diarrhea, abnormalities in muscle tonus,

Acromegaly presenting with low insulin-like growth factor-1 levels and diabetes: a case report.

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BACKGROUND Acromegaly is an endocrine disorder arising from excessive serum growth hormone levels in adulthood and is characterized by progressive somatic enlargement. Biochemical confirmation is achieved by demonstration of elevated baseline serum growth hormone levels which are not suppressed

Symptomatic gastric amyloidosis in patients with primary systemic amyloidosis.

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We reviewed the clinical records of 769 patients with primary systemic amyloidosis who had been examined at Mayo Clinic Jacksonville (Jacksonville, Florida) or Mayo Clinic Rochester (Rochester, Minnesota) during a 12-year period (1978 through 1989). Of these 769 patients, 59 (8%) had

Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.

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KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been reported. We present a clinical report of two unrelated males, with two nonsense KIAA2022 pathogenic variants, with profound intellectual

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