background participants

Participant 086


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Female, age 25 with Landau-Kleffner syndrome and progressive lower limb weakness

Date of Report

Sep 21, 2018

Description

The participant’s development was typical until the age of three when she experienced sudden regression and lost her ability to speak. She has a history of abnormal brain activity (abnormal EEG) but has not had seizures. She received a diagnosis of Landau-Kleffner syndrome at age 3. She has significant difficulty sleeping and sleeps no more than two hours at night.

Around age 21, she started falling frequently. It is unclear if the falls are caused by muscle disease, motor difficulty, or drop attacks. Her difficulty walking has worsened in the past few year; she can walk short distances with assistance at this time.

Other symptoms include multiple café-au-lait spots, swirling, streaky patches of dark pigmentation on the skin of her arms (hyperpigmentation), autism, obsessive-compulsive behavior, and short stature.

Symptoms / Signs
  • Absent speech and abnormal brain activity (Landau-Kleffner syndrome)
  • Autism
  • Obsessive-compulsive behavior
  • Difficulty sleeping (sleep disturbance)
  • Short stature
  • Lower limb muscle weakness
  • Difficulty walking (gait disturbance)
  • Low frontal hairline (low anterior hairline)
  • Scaly patches and red skin on scalp (seborrheic dermatitis)
  • Increased distance between the eyes (telecanthus)
  • Broad neck
  • Swirling darker colored patches of skin on arms (hyperpigmentation of the skin)
  • Brown birthmarks (multiple café-au-lait spots)
  • Increased body hair (hirsutism)
  • Urinary and bowel incontinence
Current Treatments
  • Cleocin-T – skin rash
  • Clonazepam – seizures
  • Lamictal – abnormal EEG
  • Nystatin – infection
  • Seroquel, Zoloft – obsessive-compulsive behavior
Prior Treatments
  • Dilantin – speech
Considered treatments
Previously Considered Diagnoses
  • Congenital disorder of glycosylation
  • Metabolic condition
  • Mitochondrial condition
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Unknown
Chr1:205492739
NM_002596
c.259C>T
p.R87C
Autosomal recessive
Chr22: 51020982; Chr22:51021060
N/A; NM_005198
c.224+5G>C; c.151C>T
extended splice; p.Q51X
Autosomal recessive
Chr12:117660575; Chr12:117672371
NM_000620; NM_001204218
c.4022A>G; c.3336A>G
p.K1341R; p.L1112L
Contact

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