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Participant 014


undiagnosed

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Female, age 20 with early onset hearing loss, frequent fevers and flares of pain with blurred vision and vomiting, systemic itching, delayed gastric emptying (gastroparesis), recurrent infections, and reduced sweating

Date of Report

Dec 14, 2016

Description

The patient was born early at 35 weeks. During the pregnancy, the patient’s mother had preeclampsia. At about 18 months, the patient was found to have early onset bilateral profound sensorineural hearing loss. Currently she has bilateral cochlear implants.

The patient was adopted from Russia at age 3 and was in relatively good health until age 14. Since then, she has had multiple infections, chronic pain, and other health issues. About 1-2 times per week she has flares of acute pain and has been diagnosed with systemic inflammatory response syndrome. She has been hospitalized dozens of times for severe abdominal pain, mild inflammation of the stomach mucous membrane (gastritis) and esophagus (esophagitis), delayed gastric emptying (gastroparesis), increased heart rate (tachycardia), polycystic ovarian syndrome (PCOS), periodic skin lesions, frequent itching, and vision disturbances. The patient also has no underarm hair and she has reduced sweating.

Symptoms / Signs
  • Reduced sweating (hypohidrosis)
  • Lack of body hair growth (hypotrichosis not involving scalp)
  • Recurrent confined pockets of pus (recurrent abscess formation)
  • Stretch marks (striae distensae)
  • A type of eczema causing peeling of scalp (mild seborrheic dermatitis)
  • Recurrent abnormal skin growths (periodic lesions of the skin)
  • Red, itchy bumps in response to pressure on skin (dermatographic urticaria)
  • Small head size (microcephaly (<-3SD))
  • Abnormal brain activity in response to light (abnormality of right visual evoked potentials)
  • Abnormality of right color vision
  • Blurred vision—occurs with a “flare” of other symptoms
  • Bilateral profound sensorineural hearing impairment
  • Underdevelopment of sweat glands in underarms (axillary apocrine gland hypoplasia)
  • No underarm hair (absent axillary hair)
  • Increased heart rate (tachycardia)
  • Poor regulation of heart rate when moving from sitting to standing (postural orthostatic tachycardia)
  • Heart murmur
  • Excess fluid in the pleural cavity of the chest (pleural effusion)
  • Mild inflammation of the esophagus (esophagitis)
  • Gastroesophageal reflux
  • Abnormal narrowing of the opening between the stomach and the small intestine (pyloric stenosis)
  • Chronic disorder of sensation in digestive tract (functional dyspepsia)
  • Bump filled with pus in the peritoneal part of the abdomen (peritoneal abscess)
  • Intermittent physical discomfort in the abdomen (intermittent right flank pain believed to be associated with ‘dry kidney’)
  • Abdominal pain
  • Mild inflammation of the stomach mucous membrane (gastritis)
  • Urinary bladder inflammation
  • Recurrent cysts on the ovaries (polycystic ovarian syndrome)
  • Abnormal growth in fallopian tubes (fallopian tube cyst)
  • Headache
  • Chronic fatigue
  • Chronic pain
  • Nausea
  • Recurrent infections
  • Recurrent pneumonia
  • Poor appetite
  • Vomiting
  • Diarrhea
  • Dehydration
  • Fever
  • Obesity
  • Vertigo
  • Scoliosis
  • Abnormal curvature of the spine (kyphosis)
  • Small depressions on the nail surface (mild nail pits)
  • Blood clot in a deep vein (deep venous thrombosis)
  • Increased number of platelets in the blood (thrombocytosis)
  • Increased level of bilirubin (increased total bilirubin)
  • Increased time for blood to thicken (prolonged prothrombin time)
  • Increased level of ferritin iron in blood (increased serum ferritin)
  • Abnormal number of white blood cells (abnormal lymphocyte count)
  • Elevated liver enzymes (elevated hepatic transaminases)
  • Elevated level of protein in blood (elevated C-reactive protein level)
  • Reduced albumin levels in the blood (hypoalbuminemia)
  • Reduced activity of coagulation factor V (Factor V Leiden heterozygote)
Current Treatments
  • Benadryl, Cromolyn—inflammation
  • Enoxaparin—blood clots
  • Ivabradine—sinus tachycardia
  • Valtrex—infection
  • Eszopiclone—insomnia
Prior Treatments
  • Tonsillectomy and adenoidectomy—frequent infection
  • Appendectomy and cholecystectomy (gallbladder removal)—abdominal pain
  • J-tube—inability to eat due to gastroparesis
  • G-tube—inability to eat due to abdominal pain
  • Abscesses removed from arm and abdominal wall—abdominal pain and abscess treatment
  • Cysts removed from right fallopian tube—Polycystic Ovarian Syndrome (PCOS)
  • Chest port—for infusions and difficult veins
  • Cochlear implants—hearing loss
Considered treatments
  • Adrenal Insufficiency
  • Familial Mediterranean Fever
Previously Considered Diagnoses
  • Adrenal Insufficiency
  • Familial Mediterranean Fever
Other Photographs
Genetic Variants of Interest
Contact

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