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Participant 095


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Male, age 7 with intractable seizures, global developmental delay, absent speech, and low muscle tone (muscular hypotonia)

Date of Report

Nov 13, 2018

Description

The participant was born at 37 weeks and spent time in the NICU due to low blood oxygen levels caused by a c-section delivery and trace amounts of fluid in the lungs. It was also discovered that he had a backflow of urine into his kidneys (vesicoureteral reflux), which was surgically corrected. At age 3 months, the participant had his first seizure. His seizures did not improve after trying a variety of medications. The participant currently has 25-35 seizures per day. At 1 year, he was diagnosed with cerebral palsy as well as developmental delay. At age 6, he was diagnosed with Lennox-Gastaut syndrome.

At age 14 months, the participant had a gastrostomy tube (G-tube) with fundoplication to assist with feeding and at age 18 months he had a procedure to decrease the amount of fluid in his kidneys (hydronephrosis). At age 5, the participant had reconstructive hip surgery on both hips. In addition, he has restricted movement of the tongue (ankyloglossia, short lingual frenulum), difficulty breathing (apnea), gastroesophageal reflux, underdeveloped hip joints, abnormality of the heart (right bundle branch block), and difficulty swallowing (dysphagia).

The participant rolled over at 4-5 months and can communicate through facial expressions and making sounds. He has an older sister who has similar symptoms and is thought to be affected with the same condition.

Symptoms / Signs
  • Global developmental delay
  • Absent speech
  • Seizures (generalized myoclonic seizures, infantile spasms)
  • Delayed gross motor development
  • Low muscle tone (muscular hypotonia, facial hypotonia)
  • Overactive reflexes (brisk reflexes, hyperactive patellar reflex)
  • Inability to walk
  • Cerebral palsy
  • Difficulty swallowing (dysphagia)
  • Small head size (microcephaly)
  • Narrow forehead
  • Flat spot on the head (plagiocephaly)
  • Visual impairment (cortical visual impairment)
  • Astigmatism
  • Abnormality of eye movement
  • Farsightedness (hypermetropia)
  • Backward rotation of the ears (posteriorly rotated ears)
  • Restricted movement of tongue (ankyloglossia, short lingual frenulum)
  • High palate
  • Abnormality of the heart (right bundle branch block)
  • Difficulty breathing (apnea)
  • Aspiration
  • Gastroesophageal reflux
  • Feeding difficulties
  • Flow of urine from bladder to kidneys (vesicoureteral reflux)
  • Excess fluid in the kidney (hydronephrosis)
  • Kidney inflammation (pyelonephritis)
  • Tapered finger
  • Underdeveloped hip joints (hip dysplasia)
  • Slender long bones of the legs (bilateral tibia and fibula)
  • Growth arrest lines
Current Treatments
  • Ankle foot orthosis
  • Ethosuximide, Keppra, Onfi, Zonismide – seizures
  • Melatonin – sleep disturbance
  • Miralax – constipation
  • Ranitidine – GERD
Prior Treatments
  • ACTH, CBD oil, IVIG, ketogenic diet – seizures
  • Deflux procedure – vesicoureteral reflux
  • Nissen fundoplication – gastroesophageal reflux
  • Bilateral hip reconstruction
Considered treatments
Previously Considered Diagnoses
  • Microdeletion/duplication disorder
Other Photographs
Genetic Variants of Interest
Contact

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