Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.

Intellectual disabilities (ID) are etiologically heterogeneous. Advanced molecular techniques could be helpful in identification of the underlying genetic defects. We aimed to characterize clinical and molecular features of three Thai patients with ID. Patient 1 had ID, hypotonia and lactic acidosis. Patient 2 had ID and growth failure. Patient 3 had ID, seizure, diarrhea and hypoglycemia. Whole exome sequencing found that Patient 1 was homozygous for a nonsense, c.1303C>T (p.Arg435Ter), mutation in FBXL4, a gene responsible for encephalomyopathic mitochondrial DNA depletion syndrome-13 (MTDPS13). Patient 2 was compound heterozygous for two novel mutations, c.3226C>T (p.Arg1076Ter) and c.3205C>T (p.Arg1069Ter), in UNC80, a known gene of infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2). Patient 3 was homozygous for a novel missense, c.427T>C (p.Cys143Arg), mutation in ADK, a known gene of adenosine kinase deficiency leading to hypermethioninemia. This study expands the mutational spectra of ID genes.

Demographics, clinical features, outcome and prognostic factors of Guillain-Barre syndrome in Thai children.

OBJECTIVE: To describe demographics, clinical profiles, management, outcomes and to determine factors associated with severity in Guillain-Barre Syndrome (GBS). MATERIAL AND METHOD: Medical records of GBS patients in Queen Sirikit National Institute of Child Health during 2000-2009 were searched. The data included demographics, clinical features, management and outcomes after 6 months to determine prognostic factors. RESULTS: Forty-eight patients with GBS were studies. Mean age of onset was 5 years. Male and female ratio was 1.4:1. History of antecedent infection was 73%. Clinical presentations included limb weakness 100%, respiratory distress 27%, facial palsy 27%, autonomic nervous dysfunction 22% and ataxia 17%. Nerve conduction study revealed demyelinating process in 57%, axonopathy in 26% and mixed type in 17%. Clinical outcomes were satisfactory in most of the patients except three patients who still had disability eighteen months after onset. Autonomic nervous dysfunction was a significant factor to determine the severity. CONCLUSION: The demographic and clinical features of GBS were similar to other published studies. The autonomic nervous dysfunction was a significant predictor for adverse clinical course. All but three patients had complete, full recovery.

Rare epileptic syndrome of ring chromosome 20 with epileptic encephalopathy: a case report.

The authors report the clinical features, electroencephalography (EEG), neuroimaging (brain magnetic resonance image-MRI), and cytogenetic findings of a young female patient with rare cytogenetic anomalies characterized by de novo 46, XX, r (20) (p13q13.3). The patient had a history of mild mental retardation, emotional liability and intractable epilepsy with non-convulsive status epilepticus. The MRI brain showed focal cerebral dysplasia over the left temporal region. The multiple seizures were refractory to antiepileptic medications and prolonged, confused state with or without a motor component. The continuous video-EEG monitor showed epileptiform discharges over bilateral frontal regions with frontal origin. The symptoms were relieved after midazolam infusion. A patient who was present with intractable epilepsy with continuous frontal epileptiform discharges, mental retardation, abnormal behavior, without dysmorphic features should be suspected of chromosomal abnormalities especially ring chromosome 20.

Childhood myasthenia gravis: clinical features and outcomes.

OBJECTIVE: To study the clinical features, treatment, outcome and factors that affected the outcome of myasthenia gravis (MG) in children. MATERIAL AND METHOD: Children aged 16 years or less with diagnosed myasthenia gravis (MG) seen at Queen Sirikit National Institute of Child Health over a 15-year period with a minimum follow-up of 6 months were reviewed. Demographic, clinical characteristics, treatment and the outcome were analyzed. RESULTS: One hundred and nineteen MG patients, 100 patients (84%) were ocular MG (OMG) and 19 patients (16%) were generalized MG (GMG). Median age of onset was 4.1 years. OMG patients had the age of onset earlier than GMG patients (p = 0.01). Female to male ratio was 1.8: 1. Ptosis was a clinical feature in 99%, accompanied with ophthalmoplegia in 63%, diplopia in 19.3%, extremity weakness in 13.4%, respiratory muscle weakness in 9%, head tilt in 10.1%, dysphagia in 7.5%, hyperthyroidism in 3.4% and epilepsy in 2.5%. One hundred and six patients who had ptosis as the initial symptom 67% were bilateral ptosis, 33% were unilateral ptosis, 10 patients progressed to GMG in 2 years. Almost all patients were treated with pyridostigmine and prednisolone. At the end of follow-up, 60.5% had pharmacological remission for more than 3 months, 18.5% had complete remission without medication. No definite factors associated with the remission were identified. CONCLUSION: OMG is the majority of MG patients and the age of onset is earlier than GMG. Early treatment by prednisolone may have the favorable effect on OMG in the progression to GMG and subsequent involvement to the other eye.

Clinical features and outcome of childhood optic neuritis at Queen Sirikit National Institute of Child Health.

OBJECTIVE: To study the clinical features, treatment, outcome and factors affecting the outcome of optic neuritis in children. MATERIAL AND METHOD: Children under 16 years of age diagnosed with optic neuritis (ON) at Queen Sirikit National Institute of Child Health over an 11-year period were reviewed. Demographic data, clinical characteristics, treatment and the outcome were analyzed. RESULTS: Thirty-one patients fulfilled the inclusion criteria. Mean age of onset was 9.2 years. Female to male ratio was 1.8:1. All cases had vision loss, bilateral 74.2% and monocular 25.8%, including decreased color vision 35% disc edema 54.8% and ocular pain 38.7%. The mean duration of follow-up was 20.38 months. The final diagnosis of these patients were 2 multiple sclerosis (MS), 2 neuromyelitis optica (NMO), 3 acute disseminated encephalomyelitis (ADEM) and 24 or isolated optic neuritis (ION). There was no statistically significant difference in gender, age of onset, number of ocular involvement, severity of visual acuity impairment, presented preceding infection, associated symptoms, CSF pleocytosis, high protein in CSF, abnormal brain or eye MRI. 93.3% of patients had clinical improvement, including 70% complete recovery visual acuity of both eyes. The statistically significance was that complete remission in females was more than in males. CONCLUSION: Childhood optic neuritis had bilateral vision loss and complete recovery. Females with optic neuritis had statistical significance with complete recovery, more than males.

Short-term outcomes of tension type and migraine headache in children.

OBJECTIVE: To study the short-term outcome and the factors associated with the outcome in childhood tension type and migraine headache patients. MATERIAL AND METHOD: Children aged 16 years or less with first diagnosed of either migraine or tension-type headache were reassured the cause of headache and treated by avoiding triggering factors, taking intermittent analgesics or a daily preventive medication such as propanolol 10 mg two times a day or amitriptyline 10 mg at night for patients who were suffered from the frequent headache attacks whether had to stop activity or go to sleep. They were followed up at 2 weeks and 2 months to confirm the diagnosis and the response to the treatment. The short-term outcomes and the possible factors associated with the outcomes were analysed. RESULTS: Pre-treatment 81% of migraine patients and 43.5% of tension-type patients were significant frequently suffered from headache attacks. Post-treatment revealed that it reduced to 4% in migraine patients and 16% tension-type patients. Gender; age at onset, severity before treatment, precipitating factors; hot weather sleep deprivation, learning stress, familial stress, night awakening, familial history of headache were not statistically significant in short-term outcomes. CONCLUSION: Treatment childhood tension-type and migraine headache by reassurance, avoid the probably precipitating factors, intermittent analgesics and usage of amitriptyline or propanolol had good efficacy in reducing the severity of attack. The authors cannot identify the associated factor with the outcome of treatment.