She presented at age 1 month with recurrent episodes of diarrheaa and dyspnea. Parents noted axial hypotonia followed by a psychomotor delay (sat at 8 months, speech delay). She also had an umbilical hernia that was surgically corrected 5 years ago.
Symptoms / Signs
- She cannot say words but responds to a few orders. She is able to communicate what she wants by pointing.
- She has motor deficits in both lower limbs, and diffuse muscle atrophy in all 4 limbs.
- She present mild hypotonia in the left leg and increased tone in the right leg. She holds her feet in equinus.
- Tendon reflexes are normal and plantar reflex is indifferent.
- She has hepatosplenomegaly. Cognition, vision, hearing appear normal.
- No treatment
- Physical therapy, Nursing
Previously Considered Diagnoses
- Mucopolysaccharidosis type 1
Genetic Variants of Interest
- IDUA gene
Siblings, age & gender
Two unaffected sisters (6-years and 2-years old) and one sister who passed away who did not showed symptoms.
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S is 6 years old, born in Mali and living there with her parents. She is smart and full of joy.