Article Figures & Data
Figures
- Figure 1
Electrocardiogram showing ST depression (orange arrows), prominent U waves (black arrows), and ST elevation (blue arrows).
- Figure 2
Normal ECG after treatment and normalization of the patient’s serum potassium level. ECG - electrocardiogram
- Figure 3
Whole exome sequencing result showing the CACNA1S variant, c.1583G>A p.(Arg528His).
- Figure 4
Mutation analysis for the sister (A) and mother (B). Mutation analysis for the patient’s brothers (C and D). NM_000069.2 6168 bp DNA refseqgene on chromosome 1 (E). Mutation site at C.1583 G>A (Arginine 528 Histidine) Mutation site at exon 11.
- Figure 5
Family pedigree chart. The black symbol represents the patient as diagnosed by genetic tests. Unaffected family members as determined by genetic testing (mother and three siblings) and phenotypic history (father and other older sons and daughters) are indicated by white symbols.
Tables
- Table 1
Relevant past medical history and interventions of a 14-year-old Saudi boy whose medical history was irrelevant.
Dates Summaries from Initial and Follow-up Visits Diagnostic Testing (including dates) Interventions Intial at presentation Presented to the emergency room with sudden-onset paralysis. The patient had gone to bed at 11 p.m. with no weakness and woke up at 6 a.m. unable to move his lower extremities. This was associated with mild pain but no paresthesia; however, during the day, his upper extremities were involved. The weakness was bilateral and involved both the proximal and distal muscles of both the upper and lower limbs. potassium level, 1.3 mmol/L (reference range: 3.5–5.5 mml/L); sodium, blood urea nitrogen, creatinine, and creatine phosphokinase were all within normal laboratory ranges. Complete blood count, coagulation profile, and liver enzyme tests showed normal findings. ECG= classical finding of low K, normal CT brain Received Intravenous potassium Intial at presentation Follow-up visits:
- After IV potassoium, patient’s neurologic symptoms had completely resolved once serum potassium level normalizedFollow-up studies were performed to determine the etiology of hypokalemia. Urine electrolytes, serum electrolytes, serum aldosterone, and renin levels were measured to rule out adrenal involvement; the results were normal. Thyroid panel results were also normal. Whole exome sequencing revealed a heterozygous pathologic variant in the CACNA1S gene -Parental fluid therapy and electrolytes without dextrose, which resulted in the improvement of his symptoms. Oral acetazolamide was administered, and he was discharged 2 months later - The patient was readmitted 2 months after his discharge from the emergency room with the same signs and symptoms Few months later Final outcome for this episode of care. He was examined during two subsequent follow-up visits and did not report new episodes of paralysis
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