Isolated bulbar palsy and dysphagia in children with respiratory symptoms.

Oropharyngeal dysphagia can cause chronic aspiration leading to significant respiratory symptoms. When dysphagia is diagnosed, an underlying cause is sought. We present a case series of 15 children diagnosed aged 6 months to 5 years (mean 2y 5mo; 11 males, four females) over a 6-year period, who were found to have an isolated bulbar palsy on genioglossus electromyography, with no accompanying neurological or neurodevelopmental disorder. Eight children had dysphagia but a normal EMG. In those with isolated bulbar palsy, management included thickened fluids (n=13), cooled boiled water (n=1), and nasogastric tube feeding (n=1). Follow-up over 1 to 8 years (mean 5y) showed complete resolution in six children, improvement in four children, and no improvement in five children (including two requiring fluids via a gastrostomy). Eight children no longer had any respiratory symptoms. Isolated bulbar palsy is under-recognized and has not been reported previously as a cause of significant dysphagia in children.

Adenovirus cerebellitis in an immunocompetent 2-year-old girl.

Acute cerebellitis (AC) is a principal cause of acute cerebellar dysfunction in previously well children. Although the condition is usually benign, fatal complications include obstructive hydrocephalus and brainstem compression; therefore, prompt accurate diagnosis is vital. 1 There are various pathogens reported in the literature as aetiological agents of AC; however, adenovirus is very rarely mentioned, with only one previous case report in the literature to the best of our knowledge. 2 This case demonstrates the importance of recognising adenovirus as a cause of AC, particularly when preceded by a respiratory tract infection in the paediatric age group. Furthermore, we highlight the role of early neuroimaging in differentiating AC from other causes of acute cerebellar dysfunction, which require different management. Our patient made a full recovery with no long-term deficits demonstrating that comprehensive investigation and consideration of atypical pathogens in the context of AC is vital in securing a favourable outcome.

Metaphyseal dysplasia associated with chronic facial nerve palsy.

INTRODUCTION: Metaphyseal dysplasia (Pyle disease) is a rare autosomal recessive disease with impressive and characteristic radiological findings but relatively mild clinical features. It is usually incidentally diagnosed, despite the impressive radiological findings of gross metaphyseal widening and thinning of cortical bone. CASE REPORT: Herein, we report an exceptionally unusual case of metaphyseal dysplasia in association with chronic facial nerve palsy. DISCUSSION: Chronic facial nerve palsy due to compression of the facial nerve in a patient with Pyle disease represents an unusual novelty. Furthermore, this case delineates the clinical spectrum and phenotype of such a rare clinical entity. To the best of our knowledge, this is the first time that such an association is being described.

Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype.

Kenny Caffey syndrome (KCS) is a rare syndrome reported almost exclusively in Middle Eastern populations. It is characterized by severe growth retardation-short stature, dysmorphic features, episodic hypocalcaemia, hypoparathyroidism, seizures, and medullary stenosis of long bones with thickened cortices. We report a 10-year-old boy with KCS with an unusually severe respiratory and gastrointestinal system involvement-features not previously described in the literature. He had severe psychomotor retardation and regressed developmentally from walking unaided to sitting with support. MRI brain showed bilateral hippocampal sclerosis, marked supra-tentorial volume loss and numerous calcifications. A 12 bp deletion of exon 2 of tubulin-specific chaperone E (TBCE) gene was identified and the diagnosis of KCS was confirmed. Hypercarbia following a sleep study warranted nocturnal continuous positive airway pressure (CPAP) when aged 6. When boy aged 8, persistent hypercarbia with increasing oxygen requirement and increased frequency and severity of lower respiratory tract infections led to progressive respiratory failure. He became fully dependent on non-invasive ventilation and by 9 years he had a tracheotomy and was established on long-term ventilation. He developed retching, vomiting and diarrhea. Chest CT showed changes consistent with chronic aspiration, but no interstitial pulmonary fibrosis. He died aged 10 from respiratory complications.

Glow in the dark.

OBJECTIVE: To highlight the importance of radiation safety and handling of radioactive secretions following 131I-meta iodobenzylguanidine (131I-mIBG) use in the treatment of neuroblastoma. METHODS: We report a 4-year-old girl with stage 4 neuroblastoma, on whom's single-photon emission computer tomography (SPECT) scan we demonstrate four extra-corporal areas of radioactivity confirming radiation uptake in the four corners of her 'comfort blanket' that had been used to cover her during the scan. It transpired that she had been sucking on the four corners of this blanket. RESULTS: The patient's secretions remain radioactive for some time following scintigraphy, as evidence of radioactivity in the patient's comfort blanket. CONCLUSIONS: Radioactive uptake of 131I-mIBG in the salivary glands of patients has previously been reported. This illustrative case emphasizes that patient's secretions remain radioactive following treatment and highlights the importance of careful handling of radioactive secretions.

Bilateral reversible basal ganglia changes associated with dystonia and hemifacial spasms in central nervous system lupus.

We report a 40-year-old woman with systemic lupus erythematosus (SLE) and associated inflammatory polyarthritis who presented with acute facial dystonic spasms. Her speech was also affected. An MRI brain showed bilateral symmetrical basal ganglia signal change on T2. This movement disorder was due to an acute manifestation of her lupus. Her symptoms resolved rapidly following treatment with (oral) steroids. Repeat MRI brain at 1 month showed complete resolution of the basal ganglia signal change. This is the first time that facial spasms and dystonia with corresponding MRI changes are reported as a presentation of lupus affecting the central nervous system (CNS lupus).