Participant 129

Participant 129

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).

Date of Report

Description

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.

Current Treatments

  • No treatment

Prior Treatments

  • Unknown

Considered treatments

  • 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.


Contact

If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org


Bio

S is 6 years old, born in Mali and living there with her parents. She is smart and full of joy.


More pictures 

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