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Status epilepticus in a child with Sanjad Sakati syndrome.

ABSTRACT: We report a 6-year-old boy who presented with status epilepticus, who had facial dysmorphism, growth and mental retardation. On investigation, he had hypocalcaemia, hypoparathyroidism and bilateral calcification of basal ganglia in cranial tomographs; features consistent with Sanjad Sakati syndrome. He was treated with intravenous calcium gluconate initially followed by oral calcium and calcitriol and recovered completely.

SUBMITTER: Prasad R

PROVIDER: S-EPMC3603786 | biostudies-other | 2013

REPOSITORIES: biostudies-other

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Status epilepticus in a child with Sanjad Sakati syndrome.

Prasad Rajniti R Kumari Chhaya C Mishra Om Prakash OP Singh Utpal Kant UK

BMJ case reports 20130201

We report a 6-year-old boy who presented with status epilepticus, who had facial dysmorphism, growth and mental retardation. On investigation, he had hypocalcaemia, hypoparathyroidism and bilateral calcification of basal ganglia in cranial tomographs; features consistent with Sanjad Sakati syndrome. He was treated with intravenous calcium gluconate initially followed by oral calcium and calcitriol and recovered completely. ...[more]

PMID: 23378547

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Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome.

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Therapeutic hypothermia for pediatric refractory status epilepticus May Ameliorate post-status epilepticus epilepsy.

Project description:BackgroundTo compare the clinical characteristics and outcomes of pediatric patients with refractory status epilepticus (RSE) and super-refractory status epilepticus (SRSE) who received therapeutic hypothermia (TH) plus anticonvulsants or anticonvulsants alone.MethodsTwo-medical referral centers, retrospective cohort study. Pediatric Intensive Care Unit (PICU) at Taoyuan Chang Gung Children's hospital and Kaohsiung Chang Gung Memorial Hospital. We reviewed the medical records of 23 patients with RSE/SRSE who were admitted to PICU from January 2014 to December 2017. Of these, 11 patients received TH (TH group) and 12 patients did not (control group).ResultsThe selective endpoints were RSE/SRSE duration, length of PICU stay, and Glasgow Outcome Scale (GOS) score. We applied TH using the Artic Sun® temperature management system (target temperature, 34-35 °C; duration, 48-72 h). Of the 11 patients who received TH, 7 had febrile infection-related epilepsy syndrome (FIRSE), one had Dravet syndrome, and three had traumatic brain injury. The TH group had significantly shortern seizure durations than did the control group (hrs; median (IQR) 24(40) vs. 96(90), p < 0.05). Two patients in the TH group died of pulmonary embolism and extreme brain edema. The length of PICU stay was similar between the groups (days; median (IQR) 30(42) v.s 30.5(30.25)). The TH group had significantly better long-term outcomes than did the control group (GOS score, median (IQR) 4(2) v.s 3 (0.75), p = 0.01∗). The TH group had a significantly lower incidence of later chronic refractory epilepsy than did the control group (TH v.s non-TH, 5/11 (45%) v.s. 12/12(100%), p < 0.01).ConclusionsTH effectively reduced the seizure burden in patients with RSE/SRSE. Our findings support that for patients with RSE/SRSE, TH shortens the seizure duration, ultimately reducing the occurrence of post-status epilepticus epilepsy and improving patients' long-term survival.

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