Clinical manifestation of Hurler syndrome in a 7 year old
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The following case was reported in Contemporary Clinical Dentistry.

A 7-year-old child was reported to the Department of Pedodontics with the chief complaint of dull pain and bilateral facial asymmetry in the lower jaw since past 1 month.

Examination revealed the following:

- Stunted growth and a short neck
- Dolichocephalic head with marked macrocephaly
- Prominent occipital and frontal bone with frontal bossing
- Hypertelorism of fronto-occipital area in lateral view
- Depressed broad nasal bridge with flared nostrils
- Prominent supra orbital rim bilaterally
- Ptosis of eyeballs with ocular hypertelorism, thick eyelids
- Short, stubby hands with clawed finger

Facial asymmetry was more marked on the right side due to diffuse swelling at the angle and body of the mandible. The child had an enlarged abdomen, herniated umbilicus, and massive hepatosplenomegaly.

Intraoral examination revealed a large tongue, broad arches with interdental spacing, and moderate anterior open bite with thick gingivae.

The radiograph revealed the following features:

- Large cyst-like area of bone destruction surrounding unerupted permanent canine, premolar and molar regions.

- Hypoplastic mandibular condyles with short neck and rami with flattening of superior surface of condyles

- Lateral and PA view of the skull showed dysostosis multiplex including a large skull with thickened and sclerotic calvarium and base of the skull, frontal and occipital hyperostosis, hypertelorism and sella turcica with J sign

- Chest radiograph showed oar-shaped ribs with narrowing at the vertebral ends and broadening at the sternal ends

- Hand-wrist radiograph showed bullet-shaped phalanges with the proximal pointing of the second to the fifth metacarpals

Urine examination revealed an increased amount of heparan sulfate and dermatan sulfate. Blood was investigated for alpha-L-iduronidase enzyme activity to confirm the diagnosis of MPS I H. Dried blood spots on filter paper technique was used to analyze the activity of alpha L-iduronidase in blood and white blood cells.

Based on clinical findings, radiological findings, the presence of glycosaminoglycans in urine and deficiency of alpha-L-iduronidase enzyme in white blood cells, the diagnosis was confirmed as Hurler syndrome.

Important outcomes:

- Hurler syndrome is a rare autosomal recessive inborn deficiency

- Enzyme Alpha-L-iduronidase is responsible for the degradation of the glycosaminoglycans (GAGs). The absence of GAG's results into accumulation of heparan sulfate and dermatan sulfate in lysosomes of various tissues of the body

- The syndrome is known to cause organ damage, mental retardation, stunted growth, skeletal malformations, stiff joints, corneal clouding, effect on cardiorespiratory system, macroglossia with spaced and hypoplastic teeth, and excessive excretion of the heparan sulfate and dermatan sulfate in the urine

- Children with Hurler's syndrome appear nearly normal at birth except for the presence of umbilical hernia. An untreated condition may lead to death due to cardiorespiratory involvement.

- Reduced or absence of alpha L-iduronidase activity in blood or its constituents confirms the diagnosis of Hurler's syndrome.

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