Tag Archives: Pediatric


Diagnosis: MRI: Smooth surface of the brain Genetics: Doublecortin (DCX) gene, X-linked. Blood testing available. MRI in affected men: lissencephaly MRI in affected women: double cortex band heterotopia, subcortical laminar heterotopia, lissencephaly Related articles: Epilepsy,


Diagnosis: MRI: near total absence of cerebral cortex and basal ganglia. Thalami, pons, cerebral peduncles, cerebellum are present. Parts of frontal, temporal, occipital lobe may be present. i.e. loss of structures supplied by the internal carotid arteries.

Spinal Muscular Atrophy

Synonyms: see eponyms under subtypes Diagnosis: A form of motor neuron disease Genetics: SMN1 gene chr. 5 (survival motor neuron gene), autosomal recessive with modifier genes, Modifier genes: SMN2 gene number of copies, Subtypes: SMA1 a.k.a. Werdnig-Hoffman disease: onset at birth or prenatally, hypotonia frog-like leg posturing, respiratory muscle paralysis SMA2 a.k.a. intermediate: onset at … Continue reading Spinal Muscular Atrophy

Febrile Seizures

Diagnosis: Seizures associated with fever in children from 6 months to 6 years old Complicated febrile seizure: >15 minutes, recur within 24 hours, localising signs i.e. complex febrile seizures, multiple seizures These need more evaluation and observation Investigations to consider: FBC, U&E, glucose Blood cultures Urinalysis +/-urine culture CSF analysis Consider EEG and MRI Treatment: … Continue reading Febrile Seizures

General Learning Disability

Synonyms: Formerly mental disability, intellectual disability, a.k.a. mental retardation in some countries Investigations to consider: Vision testing Hearing testing Needs assessment Metabolic tests Genetic testing Tests for neurologic diseases

Tuberous Sclerosis

Synonyms: a.k.a. Bournvile disease Genetics: Genetic tests: chr. 9q34 TSC1 encoding hamartin , chr. 16p13 TSC2 encoding tuberin Diagnosis: Clinical features plus findings on investigations Clinical  features: Seizures Retinal hamartomas Skin: Hypopigmented macules a.k.a. ‘Ash leaf shaped’, easier to see with Wood lamp (UV light)= poliosis (white hair) on the scalp Ungal fibromas, shagreen patches … Continue reading Tuberous Sclerosis

Encephalofacial Angiomatosis, Sturge-Weber disease

Diagnosis: A combination of clinical findings and imaging Clinical features: Skin: Facial nevus ‘port wine stain’ ‘nevus flammeus’, may be absent. In the distribution of trigeminal nerve Eye: Congenital glaucoma, bupthalmus, cloudy enlarged cornea Findings on Investigations: CT: Calcification of the cortex Cortical atrophy MRI: Venous hemangioma of the meninges in the occiptal region. Underlying … Continue reading Encephalofacial Angiomatosis, Sturge-Weber disease

Familial Hyperekplexia

Synonyms: a.k.a. Familial startle disease Diagnosis: This is a clinical diagnosis Genetics: Autosomal dominant, autosomal recessive (frame shift) Glycine Receptor alpha subunit GLRA1 5q32 Clinical features: Infants: stiff (except when sleeping), excessive startle response Older patients: Sudden myoclonus or falling Spastic paraparesis in one family Precipitated by sudden stimuli Treatment: Responds to benzodiazepines Related articles: … Continue reading Familial Hyperekplexia

Benign Paroxysmal Torticollis

Diagnosis: This is a clinical diagnosis Clinical features: Attacks of torticollis The attacks usually last <1 week Recur every few days to every few months Improve by age 2 years, and resolve by age 3 Family history of migraine Often develop migraine later on in life Related articles: Approach to movement disorders, dystonia, genetic dystonia, … Continue reading Benign Paroxysmal Torticollis

Cyclic vomiting syndrome

Synonysms: a.k.a. Cyclical vomiting syndrome: Diagnosis: Begins in childhood & usually remits by adolescence Paroxysmal, recurrent episodes of vomiting lasting hours to days Intervening symptom free intervals Exclusion of other causes of nausea/vomiting