Patient with Dravet syndrome: A case report

Overview

Case Presentation

A 2‐year‐old male patient presented to our center with chief complaints of abnormal body movement for 3 days and on/off fever for 2 day.

Medical History

  • He had urinary incontinence.
  • On examination, he was ill‐looking, unresponsive, and not well oriented to time, place, and person. He had up rolled eyes with vacant stare, open mouth, drooling of saliva, stiffening, and abnormal movement of the right upper and lower limb.
  • On general physical examination, he had pallor.
  • He had no head control with his head being turned to one side, he did not grasp finger or reached for objects, and he recognized his mother and cooed.
  • He had learning difficulty; he was not able to speak words as he should be able to as per his age.
  • He had delayed motor development; he was not able to perform motor activities appropriate for his age. 
  • The patient had first episode of seizure at 2 months of age.
  • He also had fever after vaccination.
  • He used to have up to 24 episodes of seizure per day.

Family History

  • Unremarkable

Clinical Exam

Physical examination revealed

  • Heart rate of 142 beats per minutes
  • Respiratory rate of 28 breaths per minute
  • Blood pressure of 100/70 mm of Hg
  • Temperature of 100.20F

Laboratory examination revealed

  • Laboratory examination revealed hemoglobin 9.9 g%,
  • packed cell volume 32.9%, total red blood cell count 490,000 cells/mm3, total leukocyte count 3800 cells/mm3 with neutrophils 48%, lymphocytes 42%, monocytes 9%, eosinophil 1%, basophil 0%, platelets 256,000 cells/mm3, urea 5.8 mmol/l, 0.5 creatinine mg/dl, Na+142 mEq/L, K+ 3.8 mEq/L, total protein 70 g/L, and albumin 49 g/L.
  • His random blood glucose and calcium level were 112 mg/dl and 9.6 mg/dl, respectively.
  • C‐reactive protein (CRP) latex was negative.
  • There was no growth of microorganisms in blood after 72 h.
  • Cerebrospinal fluid (CSF) analysis showed total leucocyte count of 8 cells/mm3, protein and glucose levels were within the normal range. Urine analysis had cystine (3+) crystal/hpf

Treatment

  • He was on levetiracetam and on a regular follow‐up since then.

Clinical Outcome

  • His developmental milestones were normal till 18 months of age.
  • Later, he lost his head control. He also used to have occasional stiffening of the head toward the right, abnormal flexion of all limbs, lip smacking, and chewing movement.
  • He was later diagnosed with Dravet syndrome

Adapted from:

  1. Yadav R, Shah S, Bhandari B, et al. Patient with Dravet syndrome: A case report. Clin Case Rep. 2022;10(5):e05840. Published 2022 May 5. doi:10.1002/ccr3.5840.