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Gelastic (laughing) epilepsy is characterized by recurrent unprovoked episodes of stereotyped, brief and mirthless laughter. Hypothalamic hamartoma is most often the cause of gelastic epilepsy. Hypothalamic gelastic epilepsy presenting as a progressive epileptic disease is well known, but isolated without multiple seizure types, precocious puberty, cognitive decline and behavioural problems is not usually reported. We report a case of refractory gelastic seizures associated with indolent hypothalamic hamartoma and polysyndactyly with a follow-up of 18 years. Our case highlights the possibility of underdiagnosed hypothalamic hamartomas and unrecognised gelastic epilepsy in paediatric population.

Bell's palsy is defined as an isolated unilateral lower motor neurone facial weakness of no obvious cause. It is the most common cause for acute facial nerve (VII cranial nerve) paralysis. The incidence has been estimated at around 20 to 25 cases per 100 000 population annually but the exact incidence in children is not known. It manifests as unilateral impairment of movement in the facial muscles, drooping of the brow and corner of the mouth, and impaired closure of the eye and mouth. Acute lower motor neurone facial paralysis is a common presentation in childhood. In most cases, an aetiological agent is not identified and the condition resolves spontaneously. We have reviewed the available literature for Bell's Palsy in children, along with in-depth evidence review for use of steroids and aciclovir in this condition.

Facial palsy is not uncommon in children and usually carries a good prognosis for the idiopathic variety. However, it can be a presenting symptom of an underlying malignancy. We report two young girls who presented with unilateral facial palsy and were initially diagnosed as a€˜Bell's palsy'. One child was treated with steroids and was readmitted two weeks later with pleural effusion and thrombocytopenia. Both had evidence of an underlying malignancy on the blood film and were diagnosed with Leukaemia. Young children presenting with facial palsy should be carefully examined and a possibility of leukaemia be considered.

Transient loss of consciousness (TLOC) encompasses a group of disorders with four common presenting features which include loss of consciousness, that is transient in nature, self-limited, and not due to a trauma of the head and brain, when no probable cause can yet be identified. There are three main categories of TLOC in children and young people. The first is syncope: TLOC resulting from a sudden and reversible lack of oxygenated blood supply to the brain, often caused by transient impairment of cardiac output or systemic arterial hypotension. Secondly, TLOC due to an epileptic seizure, i.e. typically due to excessive and hypersynchronous cortical neuronal electrical activity in the brain. Thirdly a€œUnexplained TLOCa€ which includes cases not yet diagnosed fully and those for which a pathophysiological mechanism has not been identified despite thorough investigation, it includes episodes that may be due to emotional or psychogenic mechanisms or abnormal illness behaviour. This review will describe an approach to the diagnosis and management of children and young people with TLOC, and especially syncope.

The Congenital Myasthenic Syndromes (CMS) are a group of rare genetic disorders affecting neuromuscular transmission and often presents within first year of life. A high index of suspicion is usually required as clinical manifestations can be variable and non specific. RAPSN mutations are likely to be one of the common causes for CMS in patients of Indo-European ethnic origin. Clinical phenotype includes arthrogryposis, respiratory crises, transient torticollis at birth, facial deformities and weakness. Chronic stridor as an early manifestation of CMS has not been described before.

Chiari malformations type 1 is characterized by herniation of the hindbrain tissue below the foramen magnum. It's more frequently recognised now due to better imaging modalities. The symptoms are typically subtle and evolve slowly. These could be related to the compression of neural structures at the cranio-cervical junction. We describe 5 children diagnosed with Chiari 1 malformation over last 1 year. Clinical features varied from snoring to spastic quadriplegia. Symptoms improved after surgery in four children. These cases highlight the varied clinical spectrum associated with it.