Parkinsonism as a neurologic manifestation of dengue infection is rare with only 1 reported case in an adult patient. We report a case of a 6-year-old child with self-limiting post-dengue encephalopathy and Parkinsonism. This is the first reported pediatric case of post-dengue Parkinsonism and expands the neurologic manifestations associated with dengue infection in children. Clinicians should consider the possibility of post-dengue Parkinsonism in children with a history of pyrexia from endemic areas of dengue.
In a cross-sectional study of 24 Oriental children with systemic lupus erythematosus (SLE) with a mean age of 11.25 years, 75% were found to have clinical and neurophysiological evidence of cerebral lupus. Seizures were the most common manifestation affecting 11 (61%) of the cases, followed by psychosis in five (27.7%), encephalopathy in five (27.7%), headaches in five (27.7%), personality changes in four (22.2%), stroke in three (16.6%), movement disorders in three (16.6%) and myelitis in one child (5.5%). Four children had cerebral lupus as the presenting manifestation of SLE. Twenty-one children had an electroencephalogram (EEG) of which 11 were normal. Abnormalities detected in the rest included focal sharps, slowing of background and electrodecremental changes. There was a poor correlation of EEG with the clinical presentation. Sixteen children with cerebral lupus had a computed tomogram (CT) of which three were normal. The commonest abnormality was cerebral atrophy with or without infarcts. Only four of the cases had lupus anticoagulant but compliment was reduced in 13. Sixteen of the cases also had renal involvement. Treatment was generally with steroids with only two patients receiving cyclophosphamide for cerebral relapse. Eight children (44%) made a full recovery. Learning disability was the most frequent sequelae affecting one-third of children seen at a 1-year follow up. Four (22%) had epilepsy, two (11%) had motor deficits and one child had optic atrophy. One child died of cerebral haemorrhage during a hypertensive crisis.
A patient with a solitary intracranial cryptococcoma of the occipital lobe of the brain and a concomitant granuloma of similar aetiology in the breast is reported. Despite resistance of the causative fungus to 5-fluorocytosine in vitro, the patient responded well to radical excisional surgery and therapy with 5-fluorocytosine.
Transforming growth factor (TGF)-β1 (encoded by TGFB1) is the prototypic member of the TGF-β family of 33 proteins that orchestrate embryogenesis, development and tissue homeostasis1,2. Following its discovery 3 , enormous interest and numerous controversies have emerged about the role of TGF-β in coordinating the balance of pro- and anti-oncogenic properties4,5, pro- and anti-inflammatory effects 6 , or pro- and anti-fibrinogenic characteristics 7 . Here we describe three individuals from two pedigrees with biallelic loss-of-function mutations in the TGFB1 gene who presented with severe infantile inflammatory bowel disease (IBD) and central nervous system (CNS) disease associated with epilepsy, brain atrophy and posterior leukoencephalopathy. The proteins encoded by the mutated TGFB1 alleles were characterized by impaired secretion, function or stability of the TGF-β1-LAP complex, which is suggestive of perturbed bioavailability of TGF-β1. Our study shows that TGF-β1 has a critical and nonredundant role in the development and homeostasis of intestinal immunity and the CNS in humans.
Video-EEG telemetry is often used to support the diagnosis of non-epileptic seizures (NES). Although rare, some patients may have both epileptic seizures (ES) and NES. It is crucially important to identify such patients to avoid the hazards of inappropriate anticonvulsant withdrawal. To delineate the electroclinical characteristics and diagnostic problems in this group of patients, we studied the clinical, EEG and MRI features of 14 consecutive patients in whom separate attacks, considered to be both NES and ES were recorded using video-EEG telemetry. Only two patients were drug-reduced during the telemetry. Most patients had their first seizure (ES or NES) in childhood (median age 7 years; range: 6 months-24 years); 8/14 patients were female. Brain MRI was abnormal in 10/14 patients. Interictal EEG abnormalities were present in all patients; 13/14 had epileptiform and 1/14 only background abnormalities. Over 70 seizures were recorded in these 14 patients: in 12/14 patients, the first recorded seizure was a NES (p < 0.001), and 7 of these patients had at least one more NES before an ES was recorded. Only 3/14 patients had more than 5 NES before an ES was recorded. Recording a small number of apparently NES in an individual by no means precludes the possibility of additional epilepsy. Particular care should be taken, and multiple (> 5) seizure recording may be advisable, in patients with a young age of seizure onset, interictal EEG abnormalities, or a clear, potential aetiology for epilepsy.
Rhino-orbito-cerebral mucormycosis is a fungal infection that can be fatal especially in immunocompromised patients. It is extremely rare in immunocompetent individuals. We describe here an immunocompetent patient who survived rhino-orbito-cerebral mucormycosis due to Saksenaea vasiformis, and provide a literature review of this rare entity.
Dribbling (sialorrhoea) affects about 10 per cent of patients with chronic neurological disease. The variety of treatments currently available is unsatisfactory. This study was a clinical trial of the efficacy of ultrasound-guided, intraglandular injection of botulinum toxin A for dribbling, performed within the otorhinolaryngology department of the National University of Malaysia. Both pairs of parotid and submandibular glands received 25 U each of botulinum toxin A. Twenty patients were enrolled in the study. The median age was 15 years. All 20 patients (or their carers) reported a distinct improvement in symptoms after injection. Using the Wilcoxon signed rank test, there were significant reductions in dribbling rating score, dribbling frequency score, dribbling severity score, dribbling visual analogue score and towel changes score, comparing pre- and post-injection states (p<0.001). There were no complications or adverse effects during or after the injection procedure. Intraglandular, major salivary gland injection of botulinum toxin A is an effective treatment to reduce dribbling. Ultrasound guidance enhances the accuracy of this procedure and minimises the risk of complication.
Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices (MIM:616647). ITPase plays an important role in purine metabolism. In this study, we identified two novel homozygous ITPA variants, c.264-1 G > A and c.489-1 G > A, in two unrelated consanguineous families. The probands had epilepsy, microcephaly with characteristic magnetic resonance imaging findings (T2 hyperintensity signals in the pyramidal tracts of the internal capsule, delayed myelination, and thin corpus callosum), hypotonia, and developmental delay; both died in early infancy. Our report expands the knowledge of clinical consequences of biallelic ITPA variants.