scholarly journals Tuberous sclerosis complex: Clinical spectrum and epilepsy: A retrospective chart review study

2018 ◽  
Vol 9 (1) ◽  
pp. 154-160
Author(s):  
Sulaiman Almobarak ◽  
Mohammad Almuhaizea ◽  
Musaad Abukhaled ◽  
Suad Alyamani ◽  
Omar Dabbagh ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Gene Mutation ◽  
Tuberous Sclerosis Complex ◽  
Chart Review ◽  
Clinical Presentation ◽  
Retrospective Chart Review ◽  
Neurocutaneous Disorder ◽  
Development Delay ◽  
Review Study ◽  
New Onset

Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder, with heterogeneous manifestations. We aimed to review the clinical presentation of TSC and its association with epilepsy among Saudi population. This was a retrospective chart review study of 88 patients diagnosed with TSC with or without epilepsy. In 38.6% of patients, symptoms began before 1 year of age. The most frequent initial manifestations of TSC were new onset of seizures (68.2%), skin manifestations (46.6%) and development delay (23.9%). During the evolution of the disease 65.9% had epilepsy, 17% facial angiofibromas, 13.6% Shagreen patch, 18.2% heart rhabdomyomas and 12.5% retinal hamartomas. The genetic study for TSC diagnosis was done for 44 patients, 42 (95,4%) of them were genetically confirmed, for whom 13 patients had TSC1 mutation (29.5%), 29 patients were carrying TSC2 gene mutation (65.9%), Genetic test for TSC 1 and TSC 2 were negative for 2 patients (4.5%) despite positive gene mutation in their relative with TSC. The most common manifestations were central nervous system (predominantly epilepsy) and dermatological manifestations. Most of the patients develop epilepsy with multiple seizure types. TSC 2 mutation is more common than TSC 1 mutation.

scholarly journals Epilepsy surgery in tuberous sclerosis complex: the BC Children’s Hospital experience

2015 ◽  
Vol 42 (S1) ◽  
pp. S14-S14
Author(s):  
C Wilbur ◽  
C Sanguansermsri ◽  
H Chable ◽  
A Mihaela ◽  
P Steinbok ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Epilepsy Surgery ◽  
Tuberous Sclerosis Complex ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Seizure Outcome ◽  
Corpus Callosotomy ◽  
Age At Surgery ◽  
Second Resection

Background: Epilepsy occurs in up to 90% of patients with Tuberous Sclerosis Complex (TSC) and is often refractory to medications. Our objective was to assess the safety and outcome of epilepsy surgery in children with TSC at our institution. Methods: We performed a systematic, retrospective chart review of children with TSC who underwent epilepsy surgery at our institution. Patients were identified through epilepsy and clinical neurophysiology databases. Results: 19 patients (out of 81 with TSC) underwent surgery between 1995-2014. Median age at surgery was 4.2 (Range 1.1-15.6) years, with patients having failed a median 4 (Range 0-10) anti-seizure medications. Surgery comprised corpus callosotomy in 2 and resection of one or more tubers in 17. 2 patients had a subsequent second resection. Minor neurologic deficits occurred after 14% of surgeries. Median follow-up was 2.4 years (Range 0.3 -13.8 years) following surgery . At last follow-up, 47% were seizure free, including 2 patients off anti-seizure medication. Conclusions: Epilepsy surgery is safe and effective in carefully selected TSC patients, with the majority having a good seizure outcome. Children with epilepsy secondary to TSC should be referred for epilepsy surgery assessment.

scholarly journals Valproic Acid Induced Pancreatitis Presenting With Decreased Level of Consciousness in a Child With Tuberous Sclerosis Complex

2020 ◽  
Vol 25 (3) ◽  
pp. 256-260 ◽  
Author(s):  
Pierre-Charles Deschenes ◽  
Julie Autmizguine ◽  
Philippe Major ◽  
Niina Kleiber
Keyword(s):  
Emergency Department ◽  
Valproic Acid ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Clinical Presentation ◽  
Gastrointestinal Symptoms ◽  
Drug Reactions ◽  
Multiple Organs ◽  
Level Of Consciousness ◽  
New Onset

A 2-year-old Caucasian boy with tuberous sclerosis complex presented to the emergency department with lethargy and new onset myoclonias. Pancreatitis, thrombocytopenia, and coagulopathy associated to a decreased level of consciousness were diagnosed. Valproic acid had been initiated 13 months before and had been slowly increased to a dose of approximately 38 mg/kg/day. All the symptoms resolved after discontinuation of the medication. The clinical presentation of this child highlights that valproic acid-related pancreatitis can present with decreased level of consciousness without associated gastrointestinal symptoms. Adverse drug reactions associated with valproic acid can lead to damage of multiple organs and may prove fatal if not promptly recognized and managed.

scholarly journals The diverse manifestations of tuberous sclerosis complex: the experience of a provincial TSC clinic

2015 ◽  
Vol 42 (S1) ◽  
pp. S14-S14
Author(s):  
C Wilbur ◽  
C Sanguansermsri ◽  
H Chable ◽  
A Mihaela ◽  
MB Connolly
Keyword(s):  
Intellectual Disability ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Multidisciplinary Care ◽  
Care Needs ◽  
History Of ◽  
Study Population

Background: Recent consensus recommendations for Tuberous Sclerosis Complex (TSC) stress the importance of multidisciplinary follow-up for these patients. The objective of our study was to review the manifestations of TSC seen in our hospital to determine the care needs of this population. Methods: This was a systematic, retrospective chart review of children with TSC treated at our institution. Patients were identified through epilepsy and clinical neurophysiology databases. Results: The study population comprised 81 patients, born between 1987-2014, who were a median 10 (Range 0.2-23.2) years of age at last follow-up. 88% of patients had epilepsy, including 30% with a history of infantile spasms. Developmental delay was reported in 65%, while 40% had intellectual disability. Psychiatric co-morbidities occurred in 49%. The most common psychiatric diagnoses were autism (25%), ADHD (19%), and anxiety (16%). Cardiac rhabdomyomas occurred in 35% of patients and renal angiomyolipomas in 42%, while only 4% had polycystic kidneys. Subependymal giant cell astrocytomas were observed in 14% of patients. 86% had skin manifestations. Conclusions: This study reaffirms the multi-system manifestations of TSC and the need to provide comprehensive, multidisciplinary care. As many children are still very young, the prevalence of autism and intellectual disability is likely underestimated.

Improving patient safety in Palestinian hospitals: a cross-sectional and retrospective chart review study

The Lancet ◽  
2018 ◽  
Vol 391 ◽  
pp. S44
Author(s):  
Shahenaz Najjar ◽  
Nashat Nafouri ◽  
Kris Vanhaecht ◽  
Martin Euwema
Keyword(s):  
Patient Safety ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Cross Sectional ◽  
Review Study

scholarly journals Viral Hepatitis: Retrospective Review in a Canadian Pediatric Hospital

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Paulina Cybulska ◽  
Andy Ni ◽  
Carolina Jimenez-Rivera
Keyword(s):  
Viral Hepatitis ◽  
Epstein Barr Virus ◽  
Hepatitis A ◽  
Chart Review ◽  
Clinical Presentation ◽  
Retrospective Chart Review ◽  
Barr Virus ◽  
Mild Abdominal Pain ◽  
Epstein Barr ◽  
Acute And Chronic Hepatitis

Introduction. Clinical presentation of viral hepatitis ranges from mild symptoms to fulminant hepatitis. Our aim is to describe clinical presentation and outcomes of children with viral hepatitis from the Eastern Ontario/Western Quebec regions of Canada. Methods. Retrospective chart review of children diagnosed with viral hepatitis at our institution from January 1, 1998, to December 31, 2007. Results. There were 261 charts reviewed, only 64 had a confirmed viral etiology: 34 (53%) hepatitis B (HBV), 16 (25%) hepatitis C (HCV), 4 (6.3%) hepatitis A (HAV), 7 (11%) cytomegalovirus (CMV), and 3 (4.7%) Epstein-Barr virus (EBV). Children with HBV presented at a mean age of 6.4±4.6 years. Spontaneous seroconversion (appearance of HBVeAb and loss of HBVeAg) occurred in 21/34 (61.7%). Children with acute hepatitis (HAV, CMV, and EBV) presented with mild abdominal pain, jaundice, and fevers. Overall outcome was excellent. Conclusion. Acute and chronic hepatitis in children has a benign course; moreover, HBV spontaneous seroconversion is common in pediatric patients.

Sign in / Sign up

Export Citation Format

Share Document