Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke · 2002
[Hurler's syndrome--early clinical suspicion].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Søreide Kjetil, Søreide Jon Arne, Laerdal Age, Søreide Eldar, Johannessen Frode
Аннотация
BACKGROUND: Hurler's syndrome is a rare congenital metabolic disorder and is inevitably lethal when untreated. The presenting symptoms are usually vague, resembling those found in otherwise healthy children.
MATERIAL AND METHODS: We present a patient with Hurler's syndrome and discuss the unspecific clinical signs and symptoms seen in these patients based on a review of relevant literature.
RESULTS: A two-months-old infant boy was operated for a rightsided inguinal hernia. The anaesthesiologist had difficulty intubating the patient. During the following months the patient had a severe allergic reaction to vaccination, chronic rhinitis with recurrent upper airway infections, and diarrhoea and vomiting. Eventually, failure to gain weight, and psychomotoric delay led to a thorough clinical investigation. Extensive X-ray diagnostics and analysis of urine and serum concluded with Hurler's syndrome.
INTERPRETATION: Clinical vigilance is needed in the diagnosis of Hurler's syndrome. Early symptoms, such as rhinitis and hernia, are vague and unspecific. Radiological features, such as broad costae or gibbus, are helpful in obtaining the diagnosis. Decreased level of alpha-L-iduronidase in serum confirms the diagnosis of Hurler's syndrome. Patients tend to be treated symptomatically before the eventual diagnosis of this syndrome.
MATERIAL AND METHODS: We present a patient with Hurler's syndrome and discuss the unspecific clinical signs and symptoms seen in these patients based on a review of relevant literature.
RESULTS: A two-months-old infant boy was operated for a rightsided inguinal hernia. The anaesthesiologist had difficulty intubating the patient. During the following months the patient had a severe allergic reaction to vaccination, chronic rhinitis with recurrent upper airway infections, and diarrhoea and vomiting. Eventually, failure to gain weight, and psychomotoric delay led to a thorough clinical investigation. Extensive X-ray diagnostics and analysis of urine and serum concluded with Hurler's syndrome.
INTERPRETATION: Clinical vigilance is needed in the diagnosis of Hurler's syndrome. Early symptoms, such as rhinitis and hernia, are vague and unspecific. Radiological features, such as broad costae or gibbus, are helpful in obtaining the diagnosis. Decreased level of alpha-L-iduronidase in serum confirms the diagnosis of Hurler's syndrome. Patients tend to be treated symptomatically before the eventual diagnosis of this syndrome.