Lowe oculocerebrorenal syndrome
Overview
Lowe oculocerebrorenal syndrome: A rare inherited metabolic disorder characterized primarily by eye and bone abnormalities, mental retardation and kidney problems.
Symptoms
* Mental retardation * Hypotonia * Hyperactivity * Choreoathetoid movements * Screaming * Blindness * Feeding difficulty * Failure to thrive * Blond hair * Chubby during younger years * Emaciation * Excess phosphates in urine * Absence of reflexes * Severely reduced reflexes * Cataracts * Congenital glaucoma * Joint hypermobility * Undescended testes * Kidney tubule dilatation * Metabolic acidosis * Excess organic acids in urine * Excess amino acids in urine * Excess protein in urine * Hydrophthalmos * Epicanthal folds * Flabby muscles * Joint hypermobility * Rickets * Underdeveloped testes * Excess fatty tissue
Diagnosis
* Bladder & Urinary Health: Home Testing: o Home Bladder Tests o Home Urinary Tract Infection (UTI) Tests o Home Cystitis Tests o Home Kidney Tests o Home Urine Protein Tests (Kidney Function) o Home Prostate Cancer Tests * Kidney Health: Home Testing: o Home Microalbumin Tests (Kidney) o Home Urine Protein Tests (Kidney) o Home Urinary Tract Infection (UTI) Tests
Prognosis
The prognosis of Lowe oculocerebrorenal syndrome may include the duration of Lowe oculocerebrorenal syndrome, chances of complications of Lowe oculocerebrorenal syndrome, probable outcomes, prospects for recovery, recovery period for Lowe oculocerebrorenal syndrome, survival rates, death rates, and other outcome possibilities in the overall prognosis of Lowe oculocerebrorenal syndrome. Naturally, such forecast issues are by their nature unpredictable.
Treatment
* In absence of red flag symptoms, return to activity as soon as possible; rest has not been shown to improve recovery * Acetaminophen, NSAIDs, opioids, and/or muscle relaxants for pain; epidural corticosteroid injections may be indicated for resistant pain * Patient education (weight loss, exercise, proper back biomechanics and ergonomics) * Physical therapy, including pain relief modalities (ice, heat, ultrasound), stretching, strengthening, aerobic conditioning, and relaxation therapy * Surgery may be indicated for refractory disease, large neurologic deficits, unbearable pain, or significant limitations