Introduction: Leigh disease and Leigh-like syndrome are a heterogenous group of neurodegenerative disorders involving any level of the neuraxis and may present with a variety of clinical presentations, prominent among them is psychomotor regression. Despite the remarkable number of established disease genes and novel mutations being discovered, many cases of Leigh syndrome remain without a genetic diagnosis, indicating that there are still more disease genes to be identified. Case: Here we present a case of a two and a half-year-old girl who presented with delayed acquisition of developmental milestones with subsequent regression, ataxia, and dyskinesia. Her work-up showed raised blood lactate levels and lactate peak in MR spectroscopy. Mitochondria genome showed absence of mitochondrial DNA mutation, while whole exome sequence analysis revealed a novel dynein gene variant, p.A1577S. Her parents underwent genetic testing as well, and her father also had the same dynein mutation, however, is non-symptomatic. She had an older brother who initially presented with ophthalmoplegia and eventually developed psychomotor regression. He subsequently expired from respiratory failure after almost 2 years from initial presentation. Both siblings were diagnosed with Leigh syndrome. Conclusion The diagnosis of Leigh syndrome remains based on characteristic clinical and radiologic findings. However, a specific defect must be identified if reliable genetic counseling is to be provided.
Neurodegenerative Diseases|leigh Disease

Background : Caregiver burden and its impact on the quality of life is as important as determining the quality of life of children with epilepsy as these factors inl uence each other as well as the outcome of these children. Objectives : The primary objective of the study was to determine the association between caregiver burden and quality of life as well as anxiety and depressive symptoms among caregivers of Filipino children with epilepsy. Also, the study aimed to determine the prevalence rate of caregiver burden, impaired quality of life, anxiety, and depressive symptoms in an ambulatory care setting. Methodology : In this cross-sectional survey, adult caregivers accompanying their pediatric patients with epilepsy at a single tertiary center were recruited. Sociodemographic and clinical data were collected. The participants completed questionnaires for caregiver burden, quality of life, anxiety, and depressive symptoms. Results : Fifty-three caregivers participated with a mean age of 38 years. Most of them were females, married, unemployed, and at least college level. The mean age of their patients was 9.4 years and 71.7% of patients were on a single anti-epileptic drug. Lower educational level was less likely associated with caregiver burden. Although impaired quality of life and depressive symptoms were more likely associated with caregiver burden, this association did not reach statistical signii cance. Conclusion The prevalence rate of caregiver burden, impaired quality of life, anxiety, and depressive symptoms were 24.5%, 22.6%, 28.3%, and 9.4% respectively, among caregivers of Filipino children with epilepsy at a single tertiary center. Lower educational level was the only characteristic signii cantly associated with lesser odds of having caregiver burden
Caregiver Burden ; Quality of Life ; Anxiety ; Depression

OBJECTIVE: This study was designed to assess the level of caregiver burden of Filipino parents taking care of their children with developmental disabilities and to identify other factors contributing to their burden.
METHODOLOGY: The study participants were parents of children with developmental disabilities diagnosed in the Neuro-developmental Clinic of the University of Santo Tomas Hospital. They were asked to complete a survey, which included the following: 1) General demographics questionnaire that included the ff information: number of children, family income, marital status, educational level and occupation of the parents; 2) Adaptive behavior questionnaire designed to gather specific data about the abilities of the child with the disability; 3)Family Support Scale that measures the helpfulness of sources of support for families with developmentally disabled children, which is divided into informal support that included the patients, grandparents, siblings, relatives, church and government programs and the formal support, which included the physician, teachers and therapists; 4) Caregiver Burden Scale adapted from Zarit. The data was analyzed using frequency counts and percentages. Bivariate and multivariate analysis was used to determine the association of the data. A 95% confidence level was considered significant.
RESULTS: The majority (80%) of the caregivers were mothers, with a mean age of 38 years old, high school graduates and with an annual income of more than PhP 100,000. The families had an average of 1-2 children. The mean age of the children with disabilities was 6 years, and were categorized as having Global Developmental Delay [GDD] (50%), Mental Retardation [MR] (27%), Attention- Deficit Hyperactivity Disorder [ADHD] (13%) and Autism (10%). The level of burden seen among the caregivers was moderate, which was significantly associated with the annual income, severity of the disability, and the total family support score. Multivariate analysis showed that the severity of the developmental disability was an independent factor for caregiver burden.
CONCLUSION: This study provided evidence that both fathers and mothers of children with developmental disabilities seen in the Neurodevelopmental Clinic of the University of Santo Tomas Hospital experienced similar levels of stress as parents in the Western countries as well as feelings about lack of informal social support. High level of burden was significantly associated with an increased level of disability.

Human ; Male ; Female ; Adult ; Child ; Adaptation, Psychological ; Attention ; Attention Deficit Disorder With Hyperactivity ; Autistic Disorder ; Caregivers ; Developmental Disabilities ; Emotions ; Fathers ; Grandparents ; Intellectual Disability ; Marital Status ; Mothers ; Parents ; Siblings ; Social Support

INTRODUCTION: We report a 17-month old girl with a congenital erythematous papule with fine tuft of hair over her lumbosacral area that later developed multiple intraspinal abscesses involving the whole length of her spinal cord as well as tethered cord and dermal sinus at the level of L3-L4 seen on spinal magnetic resonance imaging (MRI). CLINICAL PRESENTATION: She presented with gross motor delay, and then had yellowish discharge draining from her dermal sinus at 10 months of age treated with an oral antibiotic. The yellowish discharge recurred at 17 months of age associated with intermittent fever, progressive paraplegia, flaccidity, areflexia of her lower limbs and urinary and stool retention. DIAGNOSTIC WORK-UP: She underwent spinal cord MRl aside from the laboratory examinations that included complete blood count, urinalysis, blood culture and sensitivity, wound discharge culture and sensitivity and coagulation profile. TREATMENT AND FOLLOW-UP: The patient was given ceftriaxone, vancomycin and oxacillin preoperatively. She underwent laminectomy, excision of dermal sinus tract and drainage of pus. Postoperatively, she was maintained on meropenem for 6 weeks and continued physical therapy as an outpatient basis.

Human ; Female ; Infant ; Spinal Cord ; Abscess ; Bacterial Infections And Mycoses ; Infection ; Suppuration ; Dermoid Cyst ; Neoplasms ; Cysts ; Neural Tube Defects ; Nervous System Diseases ; Nervous System Malformations