http://casereports.bmj.com This feed contains articles for BMJ Case Reports Subject Collection "Paediatrics" BMJ Case Reports http://casereports.bmj.com http://casereports.bmj.com/cgi/content/short/2013/jun18_1/bcr2013010121?rss=1 Description The patient is a 16-year-old girl who visited the clinic and presented with a 3-month history of right foot pain. She described the pain as constant and dull, and exacerbated with walking. No traumatic history was noted. Physical examination revealed evident swelling and tenderness near the second metatarsophalangeal (MTP) joint. Radiograph of the right foot revealed flattening of the second metatarsal head with subchondral sclerosis and fragmentation within the joint (figure 1). In addition, MRI demonstrated hyperintense signals on T2-weighted images (figure 2A,B). Based on clinical and radiological information, Freiberg's infraction was diagnosed and the patient was treated conservatively with rest and activity modification. After 2 months of follow-up, she was walking pain-free. ... Lin, H.-T. Liu, A. L.-J. 2013-06-18 doi:10.1136/bcr-2013-010121 Freiberg's infraction BMJ Publishing Group Ltd JUN18_1 2013 201301012 2013-06-18 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/jun12_1/bcr2012008300?rss=1 This case of chest pain complicating therapy received for ulcerative colitis in a young patient highlights the importance of a thorough history and clinical examination. The complication can be rapidly fatal if not recognised and treated quickly. Mukherjee, N. Pandya, N. Bhaduri, B. Bala, K. 2013-06-12 doi:10.1136/bcr-2012-008300 Chest pain in a 12-year-old girl with ulcerative colitis after therapy with mesalazine BMJ Publishing Group Ltd JUN12_1 2013 201200830 2013-06-12 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/jun10_1/bcr2012007008?rss=1 Ash-leaf spots, a diagnostic manifestation of tuberous sclerosis complex, are sometimes difficult to differentiate from other hypopigmented lesions. Vitiligo, naevus anaemicus and naevus depigmentosus are important clinical differentials for ash-leaf spots. Among these naevus depigmentosus poses maximum difficulty because of clinical as well as histological similarities. Here we describe a 6-month-old child with multiple segmental hypopigmented macules over the face. In isolation lesions appeared to be those of naevus depigmentosus. However, the presence of other manifestations of tuberous sclerosis favoured the diagnosis of ash-leaf spots. Important similarities and differences between the two have also been discussed. Jindal, R. Jain, A. Gupta, A. Shirazi, N. 2013-06-10 doi:10.1136/bcr-2012-007008 Ash-leaf spots or naevus depigmentosus: a diagnostic challenge BMJ Publishing Group Ltd JUN10_1 2013 201200700 2013-06-10 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/jun10_1/bcr2013009478?rss=1 Description Bacterial skin infection is a relatively frequent condition in paediatric population. The staphylococcal scalded skin syndrome or the Ritter's disease1 is a Staphylococcus aureus skin infection that typically has two periods of incidence: the neonatal period and early childhood (average presentation age 2 years). It is associated with the presence of staphylococcal strains producing exfoliative toxins (ETA and ETB), which act specifically in the granulosum area of the epidermis. These toxins bind the matrix proteins, whose function is to promote the anchoring of intercellular desmosomes, thus conditioning its rupture, and the loss of cohesion between skin cells.2 3 A 2-year-old girl presented a generalised rash with 48 h of evolution, in the context of insect bites on the face on the day before. At o ... Oliveira, A. R. S. Aires, S. Faria, C. Santos, E. 2013-06-10 doi:10.1136/bcr-2013-009478 Staphylococcal scalded skin syndrome BMJ Publishing Group Ltd JUN10_1 2013 201300947 2013-06-10 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/jun10_1/bcr2013009486?rss=1 Congenital cytomegalovirus (CMV) infection is the most common cause of intrauterine infection. It affects the central nervous system and causes microcephaly, hydrocephalus, mental retardation, hearing disorder, chorioretinitis and rarely finger anomalies. We present the case of a 4-month-old girl with an agenesis of the middle finger and syndactyly of the fourth and fifth fingers as a result of congenital CMV; this is the first such case in the literature. Here, congenital CMV infection is examined along with finger anomalies. Isikay, S. Yilmaz, K. 2013-06-10 doi:10.1136/bcr-2013-009486 Congenital cytomegalovirus infection and finger anomaly BMJ Publishing Group Ltd JUN10_1 2013 201300948 2013-06-10 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/jun07_1/bcr2013010164?rss=1 L-2 Hydroxyglutaric aciduria is a rare, progressive, autosomal recessively inherited metabolic disorder of organic acid metabolism. It is characterised by macrocephaly, progressive neurological syndrome with cerebellar features, mental deterioration, typical brain MRI findings and the presence of L-2 hydroxyglutaric acid in urine samples. We report on an 11-year-old patient who presented to the emergency department with a generalised status epilepticus, which was subsequently diagnosed as L-2 hydroxyglutaric aciduria owing to rare and different clinical presentation. Brain MRI showed peripheral white matter abnormalities in cerebral hemispheres, basal ganglia and dentate nuclei, In conclusion, L-2 hydroxyglutaric aciduria should be considered in cases of epileptic seizures such as status epilepticus, cerebellar signs and progressive neurological course. Isikay, S. 2013-06-07 doi:10.1136/bcr-2013-010164 L-2 Hydroxyglutaric aciduria presenting with status epilepticus BMJ Publishing Group Ltd JUN07_1 2013 201301016 2013-06-07 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/jun06_1/bcr2013008835?rss=1 Stroke has been recognised more frequently in children and represents a major cause of morbidity and mortality. It usually has an acute presentation, characterised by focal neurological signs, headache, altered state of consciousness or seizures. We report the case of an 18-month-male child with motor development disturbance, gait difficulty and preferential use of the left arm with right hemiparesis at clinical exam. Brain MRI showed an extensive damage involving corona radiata, thalamus, posterior arm of the internal capsule and left lenticular nucleus with atrophic retraction of the adjacent cerebrospinal fluid pathways, suggesting old ischaemic injury of the middle cerebral artery territory. Causal research pointed out at methyltetrahydrofolate reductase (MTHFR) C677T heterozygosity. He was referenced to physiotherapy and paediatric neurology consultation with favourable evolution and no recurrence of ischaemic events. Stroke is a relatively rare phenomenon in children; however, we have to consider it as a diagnosis in the presence of focal neurological deficits. MTHFR C677T mutation is considered a prothrombotic factor; however, in the absence of hyperhomocysteinaemia, no direct therapeutic approach is necessary. Oliveira, R. S. Nobre, S. Antunes, J. Campos, J. 2013-06-06 doi:10.1136/bcr-2013-008835 Disturbance of motor development: a manifestation of stroke in early childhood BMJ Publishing Group Ltd JUN06_1 2013 201300883 2013-06-06 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/jun06_1/bcr2013009512?rss=1 O_SCPLOWLC_SCPLOW-2 Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid metabolism. Cerebellar and pyramidal signs with progressive neurological syndromes, mental deterioration, tremors, seizures, epilepsy and rarely macrocephaly are clinical findings of the disease. The diagnosis depends on increased levels of O_SCPLOWLC_SCPLOW-2 hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. Brain MRI shows peripheral white matter abnormalities in cerebral hemispheres, bilateral symmetrically abnormal signal intensity in basal ganglia and dentate nuclei. In this case report, we present a 13-year-old patient who presented with tremors and anxiety symptoms and was diagnosed as O_SCPLOWLC_SCPLOW-2 hydroxyglutaric aciduria after consultation with the child neurology department. We present a patient suffering from psychiatric symptoms with a metabolic disorder. Gokcen, C. Isikay, S. Yilmaz, K. 2013-06-06 doi:10.1136/bcr-2013-009512 L-2 Hydroxyglutaric aciduria presenting with anxiety symptoms BMJ Publishing Group Ltd JUN06_1 2013 201300951 2013-06-06 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/jun03_1/bcr2013009074?rss=1 Subcapsular haematoma of the liver rarely occurs in neonates and the diagnosis is often missed or delayed. It is a catastrophic condition that can be caused by maternal, placentar or fetal factors. A high index of suspicion is essential for early identification and stabilisation of babies with such a pathology. In a newborn with hypovolemic shock and abdominal distension, haemoperitoneum should be suspected and, along with exclusion of other aetiologies, supportive therapy should be instituted. The hepatic subcapsular haematoma has a non-specific presentation, and should be considered in very low birth weight infants with hypovolemic shock. Abdominal ultrasonography is the investigation of choice. It can delineate the lesion well, differentiate it from neoplasms, rule out rupture and aid in serial follow-up. We report a premature newborn who had this uncommon condition in the early neonatal period and survived without sequelae. Goncalves, C. Aguilar, S. Prior, A. R. Oliveira, G. 2013-06-03 doi:10.1136/bcr-2013-009074 Hepatic subcapsular haematoma in a premature newborn BMJ Publishing Group Ltd JUN03_1 2013 201300907 2013-06-03 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/jun03_1/bcr2013009563?rss=1 Association of single system ectopic ureter with normal functioning bilateral kidney and absence of congenital anomalies is very rarely reported in the literature. We are reporting for the first time a case of this type of anomaly in which uretral ectopia was draining into a Gartner's cyst and was managed by laparoscopy. A 16 year girl presented with normal voiding with continuous dribbling since birth. Voiding cystourethrogram, intravenous urogram, cystovaginoscopy and retrograde contrast study confirmed the diagnosis. Ultrasound of the whole abdomen and physical examination ruled out any associated congenital anomalies. Transperitoneal laparoscopic ureteric reimplantation was performed and distal stump was ligated. On follow-up at 3 months she was completely dry; her vaginoscopy showed disappearance of cystic bulge and her voiding cystourethrogram showed normal study without any reflux. When single system ectopic ureter opens into small-to-moderate size wide opened mouth vaginal Gartner's cyst, laparoscopic ureteric reimplantation and ligation of distal stump is an appropriate procedure. Prakash, J. Singh, B. P. Sankhwar, S. Goel, A. 2013-06-03 doi:10.1136/bcr-2013-009563 Normal functioning single system ectopic ureter draining into a Gartner's cyst: laparoscopic management BMJ Publishing Group Ltd JUN03_1 2013 201300956 2013-06-03 CASE-REPORT