Abstract Details

Title Monoparesis Is a Rare Initial Manifestation of Gitelman's Syndrome

Topic Muscle Disease/Neuromuscular Junction

Presentation(s) P07 - (-)

Poster/Presentation
Number 038

Objective

Background BACKGROUND: Gitelman's syndrome, a rare autosomal recessive disease caused by a mutation in the SLC12A3 gene encoding the sodium chloride co-transporter, results in hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis typically in young adults. Clinical manifestations range from being asymptomatic to generalized muscle weakness, paresthesia, tetany and increased thirst. Symptoms can be precipitated by vomiting or diarrhea. Diagnosis is on a biochemical and clinical basis and can be confirmed by genetic analysis. Patients with severe symptoms respond well to short term intravenous magnesium and potassium supplementation.

Design/Methods DESIGN/METHODS: A 17 year old girl with no past medical history, presented with acute onset of left leg weakness, pain and tightness over left thigh and repeated falls for 3 days. She reported increased craving for salt. She denied any sensory symptoms, alcohol intake, illicit drug use, seizures or bowel or bladder incontinence. Examination revealed intact cranial nerves, 4/5 strength in left iliopsoas and hamstrings, but otherwise full strength in distal muscle groups of left lower extremity, right lower extremity and bilateral upper extremities. She had intact reflexes except an absent left quadriceps reflex, intact sensation to all modalities, normal coordination and impaired gait due to left leg weakness. Blood tests revealed hypokalemic metabolic alkalosis, serum potassium 1.8 mmol/L, serum magnesium 0.9 mg/dl, serum calcium 8.9 mg/dl and decreased urinary calcium/creatinine ratio of 0.03 mg/mg. The patient's symptoms rapidly resolved with intravenous replacement of potassium and magnesium.

Results

Conclusions CONCLUSIONS: To our knowledge, this is the first case of a patient with Gitelman's syndrome presenting with monoparesis. Typical symptoms include generalized or bilateral limb weakness, tetany and paresthesias but spreading awareness regarding monoparesis would accelerate early diagnosis: specifically serum electrolyte analysis and initiation of prompt treatment.

Authors/Disclosures
Padmaja Vittal, MD, MS (Northwestern Medicine Regional Medical Group) PRESENTER	Dr. Vittal has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Abbvie Pharmaceuticals. Dr. Vittal has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Supernus Pharmaceuticals .
Jessica Gautreaux, MD, FAAN (LSUHSC)	Dr. Gautreaux has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Dr. Gautreaux has received personal compensation in the range of $500-$4,999 for serving as a educational program development and speaker honoraria with American Headache Society. Dr. Gautreaux has received personal compensation in the range of $0-$499 for serving as a educational program development/speaker with ��ɫ��.
Mollie Baird	No disclosure on file
Allison Conravey, MD	No disclosure on file

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