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Participant 143


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Female, age 3 with brain abnormalities, flow of urine from bladder to kidneys (vesicoureteral reflux), global developmental delay and atrial septal defect

Date of Report

Sep 13, 2019

Description

The participant spent the first 19 days after birth in the neonatal intensive care unit (NICU) because of respiratory distress, feeding issues, low muscle tone (hypotonia) and slow heart rate (bradycardia). She was also found to have a heart defect (atrial septal defect). An initial MRI showed almost complete lack of myelination and enlarged ventricles.  Subsequent MRIs demonstrate diffuse white matter pallor and progressive ventriculomegaly. A diagnosis of Pelizaeus-Merzbacher Like Leukodystrophy (PMLD) was given, but it is now thought that she does not fit any of the known leukodystrophies.

The participant has had many gastrointestinal reflux issues as well as chronic pain and chronic congestion. Her chronic pain results in 5 to 10 breath holding spells per day which have been improved through iron supplementation. She also has flow of urine from the bladder to the kidneys (vesicoureteral reflux), which has resulted in frequent urinary tract infections. She is entirely non-verbal and unable to hold up her head or sit on her own. She has had many abnormal EEG tests from an early age. The participant recently presented with infantile spasms prior to her third birthday which are controlled through Vigabatrin.

Symptoms / Signs
  • Brain abnormalities (EEG with generalized slow activity, cerebral white matter atrophy)
  • Low muscle tone (generalized hypotonia)
  • Global developmental delay
  • Short stature
  • Small head size (microcephaly)
  • Facial differences (long philtrum, deep philtrum, upslanted palpebral fissures, anteverted nares, hypertelorism)
  • Red-colored birthmark (nevus flammeus)
  • Small jaw (micrognathia)
  • Narrow fingertips (tapered distal phalanges of finger)
  • Slow heart rate (bradycardia)
  • Small indentation in the lower back (sacral dimple)
  • Gastroesophageal reflux
  • Flow of urine from bladder to kidneys (vesicoureteral reflux)
  • Club foot (talipes equinovarus)
  • Abnormal movements (abnormal head movements, tongue thrusting)
  • Abnormalities of cerebrospinal fluid (decreased CSF neopterin level, decreased CSF biopterin level)
Current Treatments
  • Bactrim
  • Flonase, Zyrtec – congestion
  • Lansoprazole – gastroesophageal reflux
  • Melatonin – sleeping difficulties
  • Miralax – constipation
  • Nasogastric tube – feeding difficulties
  • Onfi – movement disorder
  • Vigabatrin – Infantile spasms
Prior Treatments
  • Bethanacol – motility
  • Ferritin – iron deficiency
  • Prednisone, topamax – EEG abnormalities
Considered treatments
Previously Considered Diagnoses
  • CDKL5 deficiency
  • FOXG1 syndrome
  • Lysosomal storage disorder
  • Metabolic condition
  • Neurotransmitter disorder
  • Pelizaeus Merzbacher Like Leukodystrophy (PMLD)
  • Sandhoff disease
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following two genetic changes to see if they are causing the participant’s symptoms. The CITED2 variant likely explains the participant’s atrial septal defect.

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
chr15:g.93443759
NM_001271.3
c.-367G>C
N/A
Autosomal dominant
chr6:139694381
NM_006079.4
c.701A>C
p.Glu234Ala
Contact

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