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Participant 122


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Male, age 5 with delayed gastric emptying (gastroparesis), episodes of low blood sugar and high ketones (ketotic hypoglycemia), kidney abnormalities, gait disturbance, and high blood pressure (hypertension)

Date of Report

Apr 12, 2019

Description

Shortly after birth, the participant had difficulty growing (failure to thrive in infancy). Testing at this time revealed delayed gastric emptying (gastroparesis) and severe acid reflux (gastroesophageal reflux). Surgery was performed and a nasogastric feeding tube was placed to help support his growth. The participant experienced recurrent ear infections (recurrent otitis media) as well as obstructive sleep apnea.

At 2 years old, the participant began having episodes of low blood sugar and high ketones (ketotic hypoglycemia) that resulted in multiple hospitalizations. He was also identified to have a variety of kidney abnormalities (left hydronephrosis, cystic dysplastic kidney, stage 1 chronic kidney disease) and obstruction of the urethra (stenotic meatus). Around the same time, he started walking and running with his feet pointed inward (gait disturbance).

Some of his additional symptoms include a drooped eyelid (congenital right unilateral ptosis), high blood pressure (hypertension), weak cartilage in wall of the trachea (tracheomalacia), inflammation of the esophagus (esophagitis), and a tissue bulge in the abdomen (inguinal hernia).

Symptoms / Signs
  • Postnatal growth retardation
  • Episodes of low blood sugar and high ketones (ketotic hypoglycemia)
  • Gait disturbance
  • High blood pressure (childhood onset hypertension)
  • Abnormality of the skull (Lukenschadel skull, mild basilar invagination)
  • Mild astigmatism
  • Mild farsightedness (hypermetropia)
  • Drooped eyelid (congenital right unilateral ptosis)
  • Long upper eyelashes
  • Recurrent ear infections (recurrent otitis media)
  • Bilateral cupped ears
  • Bilateral large earlobes
  • Narrow mouth
  • Thin upper lip (thin upper lip vermilion)
  • Recessed lower jaw (mild retrognathia)
  • Dental crowding
  • High, narrow palate
  • Weak cartilage in wall of trachea (tracheomalacia)
  • Inflammation of the esophagus (esophagitis)
  • Obstructive sleep apnea
  • Enlarged wall of the heart (left ventricular hypertrophy)
  • Heart murmur
  • Delayed gastric emptying (chronic gastroparesis)
  • Severe acid reflux (gastroesophageal reflux)
  • Rectal bleeding (hematochezia)
  • Abnormality of renal artery (congenital branched renal artery impacting supply to ureter)
  • Abnormality of the kidney (cystic dysplastic kidney, left hydronephrosis, stage 1 chronic kidney disease, severe ureterovesical junction obstruction, dilatation of left renal calices)
  • Obstruction of the urethra (stenotic meatus)
  • Large calf muscles (lower limb hypertonia of the calves)
  • Curved 5th toe on both feet (bilateral clinodactyly of the 5th toe)
  • Fusion of 2nd and 3rd toes of the foot (2-3 toe syndactyly)
  • Tissue bulge in abdomen (inguinal hernia)
Current Treatments
  • Ankle-foot orthoses – gait disturbance
  • Erythromycin – gastroparesis
  • Flonase, Zyrtec – allergy symptoms
  • Gastrostomy tube  – ketotic hypoglycemia
  • Prevacid – gastroesophageal reflux
  • Vasotec – high blood pressure
Prior Treatments
  • Intrapyloric botox – gastroparesis
  • Nasogastric tube – feeding difficulties
Considered treatments
Previously Considered Diagnoses
  • Glycogen storage disease
  • IgG deficiency
  • Microdeletion/duplication disorder
  • Mitochondrial condition
  • Russell-Silver syndrome
  • Smith Lemli Opitz syndrome
Other Photographs
Genetic Variants of Interest
Contact

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