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Participant 096


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Female, age 18 with hearing and vision loss, bleeding disorder (Von Willebrand disease), and history of a tumor in infancy (sacrococcygeal germ cell tumor)

Date of Report

Nov 19, 2018

Description

At 13 months, the participant was diagnosed with a tumor (sacrococcygeal germ cell tumor), which was managed with surgery and chemotherapy. After receiving chemotherapy, she developed bilateral hearing loss (sensorineural hearing impairment) as well as speech delay. At three years of age she began to experience vision loss and presented with many abnormalities of the eye (mild optic atrophy, macular atrophy, vitreoretinal degeneration), astigmatism and near sightedness (myopia). The participant was also diagnosed with Von Willebrand disease, a bleeding disorder, that has been treated with medication.

At age 16, the participant collapsed and was determined to have suffered an aneurysm of the right carotid artery that resulted in a brain bleed (subarachnoid hemorrhage). She was placed in an induced coma to facilitate recovery. The aneurysm was surgically corrected and a shunt was placed to help decrease the amount of fluid accumulating in the brain.

The participant also has cysts on her kidney and ovaries as well as abnormal lesions on the liver (nodular regenerative hyperplasia of liver). Other symptoms include skin differences (acanthosis nigricans, café-au-lait spot, axillary freckling, acne, hirsutism, skin tags), asthma, rapid breathing (chronic hyperventilation), anxiety, and irregular and overgrowth of a region of the body (hemihypertrophy).

Symptoms / Signs
  • Global developmental delay
  • Delayed speech and language development
  • Germ cell neoplasia (sacrococcygeal germ cell tumor)
  • Brain abnormalities (bilateral decreased cerebral ventricle size, leftward displacement of septum pellucidum, asymmetric ventricles)
  • Brain bleed (subarachnoid hemorrhage)
  • Aneurysm (right carotid artery dilation)
  • Von Willebrand disease (Impaired binding of factor VII to VWF)
  • Irregular and heavy menstrual bleeding (menometrorrhagia)
  • Nosebleeds (epistaxis)
  • Overgrowth of a region of the body (hemihypertrophy)
  • Decreased body weight
  • Anxiety
  • Headache
  • High forehead
  • Bilateral hearing loss (sensorineural hearing impairment)
  • Broad opening between eyelids (long palpebral fissures)
  • Involuntary closure of the eyelids (blepharospasm)
  • Astigmatism
  • Near sightedness (myopia)
  • Visual loss
  • Blurred vision
  • Abnormalities of the eye (mild optic atrophy, vitreoretinal degeneration, macular atrophy, retinal thinning, corneal scarring)
  • Small jaw (micrognathia)
  • High palate
  • Dark patches of thick, velvety skin (acanthosis nigricans)
  • Light colored birth mark (café-au-lait spot)
  • Left armpit freckling (axillary freckling)
  • Hirsutism
  • Acne
  • Skin mole (nevus)
  • Skin tags
  • Asthma
  • Rapid breathing (chronic hyperventilation)
  • Cysts on kidney and ovary (renal cyst, ovarian cyst)
  • Abnormality of the liver (nodular regenerative hyperplasia of liver)
  • Abdominal pain
  • Possible ovarian dermoid cyst
Current Treatments
  • Amicar, replacement factor – abnormal bleeding
  • Keppra – seizures
  • Pamelor – headaches
Prior Treatments
  • Chemotherapy – germ cell tumor
Considered treatments
Previously Considered Diagnoses
  • Beckwith Wiedemann syndrome
  • Neurofibromatosis type 1
  • Proteus syndrome
  • Retinitis pigmentosa
  • Usher syndrome
Other Photographs
Genetic Variants of Interest
Contact

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