Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.

Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen in 79% (34/43), hepatic steatosis in 82% (27/33) but diabetes mellitus in only 21% (8/44). Myopathy with elevated serum creatine kinase levels (346-3325 IU/L) affected all of them (38/38). 39% had scoliosis (10/26) and 57% had atlantoaxial instability (8/14). Cardiac arrhythmias were detected in 57% (20/35) and 46% had ventricular tachycardia (16/35). Congenital pyloric stenosis was diagnosed in 39% (18/46), 9 had esophageal dysmotility and 19 had intestinal dysmotility. Four patients suffered from intestinal perforations. Seven patients died at mean age of 17 years (range: 2 months to 39 years). The cause of death in four patients was cardiac arrhythmia and sudden death, while others died of prematurity, gastrointestinal perforation, and infected foot ulcers leading to sepsis. Our study highlights high prevalence of myopathy, metabolic abnormalities, cardiac, and gastrointestinal problems in patients with CGL4. CGL4 patients are at high risk of early death mainly caused by cardiac arrhythmias.

Pediatric traumatic brain injury in a high-income developing country: experience at a level 1 neuro-trauma center.

BACKGROUND: Data on the incidence, prevalence and mortality of pediatric traumatic brain injuries (TBIs) in developing countries are not readily available or do not exist. AIM: The aim of this study was to study the epidemiology of pediatric TBI in developing countries. METHODS: A retrospective study was conducted in a high-volume Neurosurgery Department where we reviewed pediatric cases presenting with TBI between January 2015 and December 2019. Data were collected from the electronic medical records including the patients' demographics, neuro-vital signs, mechanism of TBI and treatment types. Radiological images were screened, and patients were classified according to the type of intracranial hemorrhage. The patient's outcome and Glasgow Coma Scale on discharge were also recorded. RESULT: Nine hundred and eighty-five cases with TBI were admitted over the period of 5 years. The average age was 53.3 months standard deviation (SD) of 39.4. Male gender accounted for 63.7% of the cases. The most common mechanisms of injuries were falls and road traffic accidents/motor vehicle collisions (63.3%, 18.3%), respectively. Nausea and vomiting followed by altered consciousness and drowsiness were the commonest presenting symptoms. Mild TBI accounted for 85.2% of the cases and the majority (92.08%) were treated conservatively (P < 0.005). 93.3% of the cases were categorized as mild head injury upon discharge. The mortality rate was 1.6% in severe TBI cases. CONCLUSION: Children less than 4 years of age were highly affected by TBI. This study gives emergency physicians and neurosurgeons in developing countries an expectation about TBI in pediatric cases and the immediate management to prevent further complications.

Intracranial Hemorrhage following Spinal Surgery: A Systematic Review of a Rare Complication.

Introduction Intracranial hemorrhage (ICH) is a potentially severe complication of spinal surgeries. The occurrence of such complications causes deterioration of the patient's clinical status and delayed discharge from the hospital. Although no specific etiological factors were identified for this complication, but multiple risk factors might play role in its development, they include the use of anticoagulants, presence of uncontrolled hypertension, and perioperative patient positioning. Aim A systematic review of the literature to investigate the prevalence of different types of intracranial hemorrhages in patients who underwent spinal surgeries. Methods A literature review was conducted using multiple research databases. Data were extracted using multiple variables that were formulated incongruent with the study aim and then further analyzed. Results A total of 79 studies were included in our analysis after applying the exclusion criteria and removing of repeated studies, 109 patients were identified where they were diagnosed with intracranial hemorrhage after spine surgery with a mean age of 54 years. The most common type of hemorrhage was cerebellar hemorrhage (56.0%) followed by SDH and intraparenchymal hemorrhage; 23.9 and 17.4%, respectively. The most common spine surgery was laminectomy (70.6%), followed by fixation and fusion (50.5%), excision of spinal lesions was done in 20.2% of the patient, and discectomy (14.7%). Conclusion The data in this study showed that out of 112 patients with ICH, cerebellar hemorrhage was the most common type. ICH post-spine surgery is a rare complication and the real etiologies behind this complication are still unknown, cerebrospinal fluid drain and durotomy were suggested.