background participants

Participant 057

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 21 months with weakness of the left side of the body (hemiparesis), seizures, and mast cell accumulation (mastocytosis)

Date of Report

Mar 13, 2018


When the participant was born he had a twisted neck (congenital muscular torticollis) that resulted in a flat spot on his head (plagiocephaly). His early development was typical and he began walking at 15 months. However, his parents noticed early on that he was not using his left arm and that it seemed to cause him pain. He experienced episodes of arm paralysis and leg weakness that would last for several days. He was found to have decreased muscle tone (muscular hypotonia) and weakness in his left arm.

The participant also had trouble feeding and swallowing (dysphagia), which required a gastrostomy tube (G-tube). He also has mast cell accumulation in his skin (mastocytosis) that causes severe itching (pruritus).

The participant has had two seizures. During one of these episodes, he suddenly went quiet and was unresponsive to voice and touch for two minutes.

Despite these medical challenges, his parents report that he is progressing developmentally and is doing better physically.

Symptoms / Signs
  • Weakness of the left side of the body (hemiparesis)
  • Involuntary muscle contractions (dystonia)
  • Sudden muscle jerks (myoclonus)
  • Muscular spasms (clonus)
  • Low muscle tone (muscular hypotonia)
  • Seizures
  • Mast cell accumulation in skin (mastocytosis)
  • Severe itching (pruritus)
  • Skin rash
  • Hives (urticaria)
  • Birthmarks (cafe-au-lait spot, capillary hemangiomas)
  • Tall stature
  • Increased body weight
  • Overgrowth
  • Large head (macrocephaly)
  • Flat spot on the head (plagiocephaly)
  • High forehead
  • Sudden and intense involuntary eye movements (paroxysmal involuntary eye movements)
  • High palate
  • Inflamed esophagus (esophagitis)
  • Difficulty swallowing (dysphagia)
  • Respiratory distress
  • Aspiration
  • Chronic lung disease
  • Muscle weakness (hip flexor, pelvic girdle)
  • Single crease on palm (single transverse palmar crease)
  • Overactive reflexes in the lower limbs (lower limb hyperreflexia)
  • Unsteady walking (gait ataxia)
Current Treatments
  • Diazepam- seizures
  • Flucticasone- respiratory distress
  • Gastrostomy tube- difficulty feeding
  • Omeprazole- gastroesophageal reflux disease
  • Triamcinolone acetonide- skin rash
Prior Treatments
  • Acetazolamide- seizures
Considered treatments
  • Keppra- seizures
Previously Considered Diagnoses
  • Alternating hemiplegia of childhood
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Rapid-onset dystonia parkinsonism
Other Photographs
Genetic Variants of Interest

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


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.