Hunter and Hurler Syndromes - CRASH! Medical Review Series

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(Disclaimer: The medical information contained herein is intended for physician medical licensing exam review purposes only, and are not intended for diagnosis of any illness. If you think you may be suffering from any medical condition, you should consult your physician or seek immediate medical attention.)

[@woloabel]

Lysosomal Storage Diseases: Mucopolysaccharidosis; Hunter and Hurler Syndromes. 1) Hurler Syndrome or Mucopolysaccharidosis I (Poor Prognosis, Life Expectancy 12 Years), an Autosomal Recessive Congenital Defect of Metabolism where Alpha, L, Iduronidase is Deficient leading to Deposition and presents with Normal Behavior and Corneal Clouding along with Hepatosplenomegaly and Airway Obstruction because of the Gargoylism's Prominent Features: 1) Frontal Bossing; 2) Prominent Facial Bones; 3) Flattened Nasal Bridges; 4) Hypertelorism; and 5) Macroglossia. Epidemiology is Occurrence 1 in 100k Births. Enzyme Replacement Therapy (Recombinant DNA Technology) and Genetic Therapy are plausible and lack any genuine Application. Standard of Care is Supportive Treatment (Symptomatic Management). Laboratory Assays would show Elevated Heparan Sulfate and Dermatan Sulfate in the Urine. 2) Hunter Syndrome (Mucopolysaccharidosis II) is an X-Linked Recessive Congenital Metabolism Defect with Iduronase 2 Sulfatase Deficiency manifesting with Mild Gargoylism, Normal Eyes and a noted Excited Aggressive Behavior. Epidemiology of the disease is very rare incidence and most rarely a Female patient. The Prognosis is Poor and Life Expectancy is 15 Years if severe form or more if Mild and only mild Deposition. Treatment for Hunter's Disease includes Enzyme Replacement Therapy and Stem Cell Transplantation. Otherwise, Supportive and Symptomatic Treatment is the Standard (Palliative Management). Goodness. The worst disease of all, those that lack any Will Factor or Control! MD Paul Bolin, es geht gut.

[@bhavikagulati1218]

Perfect

[@rsharma45]

NIce slide includes lot of stuff. Please add ---- Hunter have normal eyes