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Comprehensive Care Management of a 9-Year-Old Girl with Familial Dysautonomia and Complications

This case study details the complex medical management of a 9-year-old girl diagnosed with familial dysautonomia (Riley-Day syndrome). The patient presents with multiple challenges including recurrent chest infections, unmanageable hypertension, learning difficulties, and growth impairments. She has a unique profile of symptoms such as loss of pain sensation and difficulty swallowing, leading to progressive health issues exacerbated by stress. The document outlines a multi-faceted approach to her management, including medication adjustments, fluid management, and crisis intervention strategies to control her symptoms and improve her quality of life.

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Comprehensive Care Management of a 9-Year-Old Girl with Familial Dysautonomia and Complications

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  1. Case from a region Michael Williams Director Child & Adolescent Health Mackay Base Hospital 12-0-10-12

  2. VS ur 217372 9 yr o girl - familial dysautonomia • Chest infections • hypertension – difficult to control • Crises - agitation • Scoliosis • Learning difficulties • Attentional difficulties - Ritalin

  3. VS ur 217372 • Small stature • Height < 1st percentile • Gastro-oesophageal reflux • fundoplication • Swallowing difficulties with aspiration • Button • lack of pain awareness

  4. Familial dysautonomia • Riley-Day syndrome • Hereditary sensory & autonomic neuropathy • Inability to feel pain & temperature • Lack of tears • Skin blotching • Decreased taste • Much more • Symptoms worse over time • Ashkenazi Jews

  5. VS ur 217372 • dysautonomia crises – Aug & Sept • dry retching, shut down, anxious • Aug – viral illness • diazepam, fluids • Sept • repeat doses of diazepam, ondansetron (not useful) • BP 160/110 max, gen 140/90 – doubled atenolol • Unsettled night – PEG fluids, still dry retching • IV N saline, elecs taken am • fit that evening

  6. VS ur 217372 • Na 121 , K 4.5 , Cl 85 , bicarb 23 10am • U Na 151 • Istat Na 116 00.45, osmolality 253 (> 275) • 3% saline – corrected

  7. VS ur 217372 • Dysautonomia crisis • Triggered by stress – physical/emotional • 40% - frequent crises • Vomiting – central autonomic dysfunction • Dry retching • Diazepam most effective • Hypertension … refractory

  8. VS ur 217372 • Hyponatraemia • Dopamine • Renal salt wasting • Atrial natiuretic peptide – high levels • false sense of salt/fluid overload • Hyponatraemia • Dehydrationa • To avoid hyponatraemia • early & aggressive diazepam • aggressive BP control • Early IV - rather than PEG fluids

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