background participants

Participant 112


On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

 

Male, age 4 with global developmental delay, brain abnormalities, seizures, and hearing and vision loss

Date of Report

Mar 04, 2019

Description

The participant was born early at 36 weeks. During the pregnancy, the participant’s mother had preeclampsia and gestational diabetes. After birth, the participant was found to have heart defects (atrial and ventricular septal defects), brain abnormalities (hydrocephalus, agenesis of the corpus callosum, porencephalic cyst and arachnoid cyst), and skull abnormalities (brachycephaly, turricephaly). He was in the Neonatal Intensive Care Unit (NICU) for 43 days after birth. At 3 weeks, a shunt was placed to relieve excess fluid in his brain.

At 6 months, the participant was hospitalized for spasms. He has had seizures ever since. He was also found to have hearing and vision loss. An MRI of the spine showed an abnormal fat deposit on his spinal cord, which was removed surgically.

The participant has severe developmental delay. At 4 months old he smiled and rolled over; however, he is currently non-verbal and does not walk.

Symptoms / Signs
  • Global developmental delay
  • Seizures
  • Small head size (microcephaly)
  • Skull abnormalities (brachycephaly, turricephaly)
  • Brain abnormalities (hydrocephalus, agenesis of the corpus callosum, abnormal hindbrain morphology, porencephalic cyst, arachnoid cyst)
  • Abnormal spinal cord (tethered cord, lipoma)
  • Abnormal facial features (high forehead, abnormal facial shape, hypoplastic philtrum, high palate)
  • Eye abnormalities (long palpebral fissure, hypertelorism, papilledema, heterochromia iridis, abnormal pupillary light reflex, cerebral visual impairment, curly eyelashes)
  • Sensorineural deafness
  • Heart abnormalities (atrial septal defect, ventricular septal defect)
  • Abnormal thumb (adducted thumb, proximal placement of thumb)
  • Inability to straighten finger (flexion contracture of digit)
  • Lower limb asymmetry
  • Excess fluid in kidney (hydronephrosis)
  • Decreased muscle tone (generalized hypotonia)
  • Feeding difficulties
  • Recurrent respiratory infections
Current Treatments
  • Albuterol sulfate – respiratory infections
  • Benadryl, Cetirizine, Loratidine, Nasonex – allergies
  • Budesonide, Pulmicort – asthma
  • Clonazepam, Clobazam, Diastat, Sabril – seizures
  • Clonidine, sodium chloride – high blood pressure
  • Cuvposa, Robinul – drooling
  • Polyethylene glycol – constipation
  • Ranitidine – gastroesophageal reflux disease
  • Zofran – nausea
Prior Treatments
  • Adenoidectomy
  • G-tube –  feeding difficulties
Considered treatments
Previously Considered Diagnoses
  • Ciliopathy
  • Fanconi anemia
  • Microdeletion/duplication disorder
Other Photographs
Genetic Variants of Interest
Contact

If this participant sounds like you or someone you know, please contact us!

Disclaimer

The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.