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[Hurler's syndrome--early clinical suspicion]
Kjetil Søreide1, Jon Arne Søreide, Age Laerdal
1Kirurgisk avdeling, Medisinsk fakultet Universitetet i Freiburg, Tyskland.
Insights
Early diagnosis of Hurler's syndrome is crucial. This rare metabolic disorder presents with vague symptoms like rhinitis and hernias, often delaying identification in infants.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Hurler's syndrome is a rare, lethal congenital metabolic disorder.
- Untreated, its early symptoms are often vague and mimic common childhood ailments.
Observation:
- A two-month-old infant presented with a right-sided inguinal hernia and difficult intubation.
- Subsequent months revealed severe allergic reactions, chronic rhinitis, recurrent infections, and failure to thrive.
Findings:
- The infant was diagnosed with Hurler's syndrome after extensive investigation, including X-rays and biochemical analyses.
- Key diagnostic indicators include decreased alpha-L-iduronidase levels and characteristic radiological findings.
Implications:
- Vigilance for unspecific symptoms like rhinitis and hernias is vital for early Hurler's syndrome diagnosis.
- Prompt diagnosis and intervention are essential for managing this severe metabolic disorder.
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.