R. Kulshrestha

A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness

Myosin heavy chain (MyHC) is a major structural component of the striated muscle contractile apparatus. In adult human limb skeletal muscle, there are three major MyHC isoforms, slow/beta cardiac MyHC, MyHC IIa and MHC IIx, which are important for the functional characteristics of different muscle fiber types. Hereditary myosin myopathies have emerged as an important group of diseases with variable clinical and morphological expression dependent on the mutated isoform, and also the type and location of the mutation. Myosin myopathy with external ophthalmoplegia is associated with mutations in MYH2, encoding for MyHC IIa that is mainly expressed in type 2A muscle fibers and is inherited in dominant as well as recessive manner. We present a family with myopathy with early onset proximal muscle weakness, facial muscle involvement and ophthalmoplegia. Muscle biopsy demonstrated lack of type 2A muscle fibers and genetic work up demonstrated that the disease was caused by a novel recessive MYH2 mutation: c.1009-1G>A resulting in skipping of exon 12, which is predicted to result in a frame shift and introducing at premature stop codon at position 347 (p.Ser337Leufs*11).

Women’s experiences of sexuality after spinal cord injury: a UK perspective

Study designCross-sectional phenomenological qualitative study.ObjectivesTo investigate women’s experience of sexuality after spinal cord injury (SCI) with a focus on rehabilitation and manging practical impact.SettingWomen with SCI living in the community in United Kingdom (UK).MethodsParticipants were recruited via three UK SCI centres, ensuring tetraplegia, paraplegia and cauda equina syndrome representation. Single semi-structured interviews exploring individual’s experiences around sexuality following SCI were recorded and transcribed for thematic analysis.ResultsTwenty-seven women aged 21–72 years, sexually active since SCI were interviewed, each lasting 17–143 min (mean 55 min). Six key themes emerged: physical change, psychological impact, dependency, relationships and partners, post injury sexual life and sexuality rehabilitation.ConclusionsSexuality remains an important, valued aspect of female identity following SCI; sexual activity continues and though altered remains enjoyable and rewarding. Sexuality rehabilitation should commence early, preparing women for altered sexual sensation, disclosure of altered sexual function to partners, and encouraging early self-exploration. Techniques optimising continence management in preparation for and during sex should be taught. Participants identified a need for women-only education and support groups, increased peer support, self-esteem, communication and social skills training and even fashion advice and pampering sessions during rehabilitation. Support and education for partners are needed. Staff require support to be knowledgeable and confident in addressing women’s sexuality needs. Use of the Ex-PLISSIT model for psychosexual support could help staff to better meet these needs.

Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: an atypical case

Immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) mutations are associated with partial continuum between two extremes of rapidly lethal disorder of spinal muscular atrophy with respiratory distress type 1 (SMARD1), with infantile axonal neuropathy, diaphragmatic weakness and commonly death before 1 year of age, and Charcot-Marie-Tooth disease (CMT) type 2S with slowly progressive weakness and sensory loss but no significant respiratory compromise. We present an atypical case of CMT2S. A 9 month old boy presented with bilateral feet deformities and axonal neuropathy. Genetic testing revealed two heterozygous variants in the IGHMBP2 gene: c.1156 T > C p.(Trp386Arg) in exon 8 and c.2747G > A p.(Cys916Tyr) in exon 14, that were inherited from his father and mother respectively. At 9 years, he developed diaphragmatic weakness, following which he was established on non-invasive ventilation. Our case emphasizes the importance of life long respiratory surveillance for patients with CMT2S and expands the phenotype of this condition.

Long-term outcome of paediatric spinal cord injury:

Background Spinal cord injuries are relatively uncommon in children and evidence about long-term outcomes is limited. This study was performed to determine the frequency of common long-term complications in patients sustaining spinal injury in childhood (0–18 years) and who were followed up at a single dedicated spinal injuries centre in the UK. Method A retrospective review of clinical records of all patients injured at or less than 18 years of age between 1971 and 1999. Complications studied were renal, bowel, musculoskeletal, pressure ulcers and post-traumatic syringomyelia. Long-term social outcomes of independence, employment and driving were also assessed. Results Of 69 individuals (47 males, 22 females) the median age at injury was 17 years (range 0–18 y); 68% were older than 13 years at injury and 74% had traumatic injuries. Patients had an average duration of 27 years (12–43 years) of spinal injury – half had a neurological level of T6 and above, 80% had paraplegia and 20% had quadriplegia. Discussion Patients with both complete and incomplete spinal cord injury have minimal neurological recovery. Managing medical complications is vital as only 11.5% had normal voiding and 10.6% had normal bowel function. The incidence of skin ulcers increases with duration of spinal cord injury and scoliosis is higher in the non-traumatic injury group. Spasticity is observed in 66.6% and post-traumatic syringomyelia in 11.7%. Long-term social outcomes are good with 75% patients able to do independent care, 46% could drive and 39% managed employment or higher education. Conclusions This study documents the long-term outcomes and complications of spinal cord injuries sustained in childhood. With initial active physiological conservative management of the majority of patients, patient education and ongoing support the majority of patients achieved long-term survival and led independent and productive lives.

Spinal cord infarction in a sick neonate from predominant haemorrhagic aetiology: a case report

Introduction:Spinal cord injuries in new born infants following a traumatic delivery or umbilical cord catheterisation due to thromboembolism are well known. Cases with atraumatic acute onset of neonatal paraplegia have also been described in preterm babies or babies born small for gestational age with a stormy postnatal course related to ischaemic aetiology. We describe a rare case of infarction of the spinal cord from a predominant haemorrhagic aetiology.Case presentation:A term female baby, first child of unrelated parents, was born by normal vaginal delivery. She had meconium aspiration at birth, leading to severe respiratory distress, requiring neonatal intensive care admission. At 2 weeks, she developed new flaccid paraplegia. MRI scan of the spine showed haemorrhagic infarction of the spinal cord from the level of thoracic inlet, vertebral level C7–T1. A follow-up MRI scan at 11 months revealed severe atrophy of the cord distal to C6. At 3 years of age, she had good upper-limb function, diaphragmatic breathing and flaccid paralysis of lower limbs.Discussion:In an acutely unwell term infant with symptoms of paralysis or spinal cord damage, haemorrhagic infarction needs to be considered in the differential diagnosis. To our knowledge, this is the first reported case of spinal cord injury in a term infant with a haemorrhagic lesion, and it helps to understand the pathogenesis of nontraumatic insult.

Two Cases of Spinal Muscular Atrophy Type II with Eosinophilic Oesophagitis

Although primarily characterised by loss of motor neurons from the anterior horn of spinal cord and muscle atrophy, spinal muscular atrophy (SMA) is now recognised as a multi-systemic disorder. Here, we report two SMA Type II patients with eosinophilic oesophagitis (EoE), a rare, chronic immune/antigen-mediated condition. One patient presented with dysphagia and poor weight gain, and the second patient had symptoms of gastro-oesophageal reflux (GOR) and poor weight gain. In both patients, macroscopic observations during gastroscopy indicated typical signs of EoE, which were verified during histological examination of oesophageal biopsies. Given that there is a specific treatment strategy for EoE, these cases highlight the importance of considering this condition in clinical investigations - especially for patients with SMA - who have GOR, discomfort, and oral aversion.