Rare Diseases

Interesting Facts of Tay Sachs Disease Tay Sachs disease is an autosomal recessive lipid storage disorder caused by HEXA gene mutations and characterized by progressive neurodegeneration  Carrier frequency of mutations involved in Tay Sachs disease is highest among individuals of Ashkenazi Jewish and Central-eastern European descent  Classified into 3 forms depending on timing of symptom appearance: infantile …

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What is Kugelberg Welander syndrome Rare hereditary neuromuscular disorder that usually manifests during the first and second decades of life  Some clinical manifestations are similar to Tay-Sachs, such as wasting and weakness of arm and leg muscles Distinguishing clinical feature of Kugelberg-Welander syndrome is scoliosis; hexosaminidase levels are within reference range Distinguish by molecular testing …

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Interesting Facts Vestibular schwannoma is a rare, benign tumor originating from Schwann cells in the vestibular portion of the eighth cranial nerve in the inner ear Majority of these tumors are unilateral; bilateral tumors typically occur in association with neurofibromatosis type 2 Hearing loss is the most common presenting symptom; other symptoms include tinnitus; vertigo; …

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Synopsis Key Points Wolff Parkinson White syndrome (WPW) is a ventricular preexcitation syndrome associated with an extranodal accessory pathway 1 2 Patients may be asymptomatic or present with paroxysmal supraventricular tachycardia or atrial fibrillation. Rarely, atrial fibrillation degenerating to ventricular fibrillation and sudden cardiac death may be the initial presentation In sinus rhythm, the ECG may be …

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Williams syndrome is a rare developmental disorder that is present at birth (congenital). Williams syndrome may cause developmental and learning disabilities as well as physical problems, including heart, kidney, and blood vessel problems. Williams syndrome affects children differently. However, most children with Williams syndrome can live full and active lives with the right medical care …

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What is Zollinger-Ellison Syndrome Zollinger-Ellison syndrome is a rare clinical syndrome resulting from hypersecretion of the hormone gastrin by neuroendocrine tumors known as gastrinomas Key Points Zollinger-Ellison syndrome is characterized by refractory peptic ulcer disease, esophagitis, and secretory diarrhea Gastrinomas occur most commonly in the duodenum or pancreas and are malignant in 60% to 90% of …

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What is Autosomal recessive brachyolmia Autosomal recessive brachyolmia is a rare genetic disorder This condition is a skeletal disorder. Synonyms Brachyolmia, Hobaek/Toledo type Symptoms Stunted growth Short trunk Patyspondyly Longitudinal striations in the femoral neck  Peripheral punctuate corneal opacities