Painless Loss of Vision as The First Presentation of Undiagnosed Neurofibromatosis 1 in A Child

How to Cite This Article: Paul SP, Ahmed S, Painless Loss of Vision as The First Presentation of Undiagnosed Neurofibromatosis 1 in A Child. Iran J Child Neurol. Autumn 2015;9(4):58-60.AbstractObjectiveA 10 year old presented with painless loss of vision as the first manifestation of neurofibromatosis 1 (NF1). Clinical assessment detected diagnostic features of NF1 and Magnetic Resonance Imaging (MRI) scan confirmed presence of plexiform neurofibroma and bilateral optic pathway glioma (OPG). The child was managed with chemotherapy which helped in improvement of vision. Review of current literature recommends vision testing in diagnosed cases of NP1 till 7 years of age; this is aimed at detecting visual impairments resulting from a symptomatic OPG

Chronic Renal Failure Secondary to Unrecognized Neurogenic Bladder in A Child with Myelodysplasia

How to Cite This Article: Ahmed S, Paul SP. Chronic Renal Failure Secondary to Unrecognized Neurogenic Bladder in A Child with Myelodysplasia. Iran J Child Neurol. Spring 2017; 11(2):78-81.AbstractMyelodysplasia includes a group of developmental anomalies resulting from defects that occur during neural tube closure. Urological morbidity in patients with myelodysplasia is significant and if not treated appropriately in a timely manner can potentially lead to progressive renal failure, requiring dialysis or transplantation. We report the case of a 13-year old girl with neurogenic bladder who presented chronic renal failure secondary to lipomyelomeningocele with retethering of cord. She was managed with urinary indwelling catheterization until optimization of renal function and then underwent detethering of cord with excision and repair of residual lipomeningomyelocele. Her renal parameters improved gradually over weeks and then were managed on self clean intermittent catheterization. The case emphasizes the need for considering rethering of spinal cord in children with myelodysplasia where symptoms of neurogenic bladder and recurrent urinary tract infections occur. References 1. Favazza TF. Myelodysplasia and Neurogenic Bladder Dysfunction. 2014. Available at http://emedicine. medscape.com/article/1015695-overview (accessed 30th August 2016)2. Larijani FJ, Moghtaderi M, Hajizadeh N, Assadi F. Preventing Kidney Injury in Children with Neurogenic Bladder Dysfunction. Int J Prev Med. 2013;4(12):1359- 64.3. de Azevedo RV, Oliveira EA, Vasconcelos MM, et al. Impact of an interdisciplinary approach in children and adolescents with lower urinary tract dysfunction (LUTD). J Bras Nefrol. 2014;36(4):451-9.4. Elliott SP, Villar R, Duncan B. Bacteriuria management and urological evaluation of patients with spina bifida and neurogenic bladder: a multicenter survey. J Urol. 2005;173(1):217-20.5. Danforth TL, Ginsberg DA. Neurogenic lower urinary tract dysfunction: how, when, and with which patients do we use urodynamics? Urol Clin North Am. 2014;41(3): 445-52.6. Seki N, Masuda K, Kinukawa N, Senoh K, Naito S. Risk factors for febrile urinary tract infection in children with myelodysplasia treated by clean intermittent catheterization. Int J Urol. 2004;11(11):973-7.7. Kochakarn W, Ratana-Olarn K, Lertsithichai P, Roongreungsilp U. Follow-up of long-term treatment with clean intermittent catheterization for neurogenic bladder in children. Asian J Surg. 2004; 27(2):134-6.8. Obara K, Mizusawa T, Isahaya E, et al. Efficacy of Clean Intermittent Catheterization for Urinary Incontinence in Children with Neurogenic Bladder Dysfunction Secondary to Myelodysplasia. Low Urin Tract Symptoms. 2010;2(2):100-5

Congenital spinal dysraphism with infected sacrococcygeal sinus tract: need for improved awareness amongst clinicians

Spinal dysraphism (SD) includes a group of developmental anomalies resulting from failure of fusion of parts along dorsal aspect of midline structures lying along spinal axis from skin to vertebrae and spinal cord. There are two types of SD, open and closed. Close SD, also known as spina bifida occulta, can present with diagnostic challenges in resource limited settings where awareness regarding the condition and specialist radiological investigations, including Magnetic Resonance Imaging (MRI), may not be easily available. Undiagnosed cases can potentially lead to long term morbidities. We report the case of a 13-year old boy with closed SD presenting with recurrent infections of the sacrococcygeal sinus tract which were treated with oral antibiotics for what was considered to be localized infection. Following neurosurgical assessment and spinal MRI a diagnosis of SD was made. He underwent surgical excision of the sinus tract and closure of the defect with good outcome. The case emphasizes the need for awareness regarding SD in children who have sinus tracts in the intergluteal fold with symptoms of recurrent discharge and infection

Reflex anoxic seizure: an important diagnosis to remember

Children may present with a sudden collapsing episode, and the paramedic team is often requested to attend such emergencies. It is important that these episodes are correctly categorised as being either epileptic or non-epileptic events. A reflex anoxic seizure (RAS) is one such presentation. RAS is a paroxysmal, spontaneously-reversing, brief episode of asystole triggered by pain, fear or anxiety. RAS occur due to a brief stoppage of the heart caused by overactivity of the vagus nerve. This is usually triggered by an unpleasant stimulus, following which the child may appear pale and lifeless. The diagnosis is usually made by a paediatrician but it is important that the paramedic team are aware of this condition. A child with a diagnosis of RAS may be managed by reassurance from paramedic practitioners if the child is judged to be well after an episode. https://www.magonlinelibrary.com/doi/full/10.12968/jpar.2012.4.7.409 Abstract published with permission

NICE guideline review:Epilepsies in children, young people and adults NG217

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