Outcomes on the Utilization of Lipodermoid Skin for Anterior Lamella Reconstruction in Severe Lipodermoids With Eyelid Coloboma: A Case Series.

Two young children with upper lid colobomas and associated lipodermoids underwent eyelid reconstruction using lipodermoid skin as an autograft with good cosmesis. We describe their presentation, surgical management, and clinical progress following reconstruction, demonstrating the suitability of this skin as an adequate graft avoiding the need for further skin graft harvesting in such cases.

Acute onset blindness: a case of optic neuritis and review of childhood optic neuritis.

Optic neuritis (ON) is an acquired disorder of the optic nerve due to inflammation, demyelination or degeneration. We report a child who presented with acute onset bilateral visual loss who, following a diagnosis of ON, was treated and had excellent visual recovery. Paediatric ON is considered to be different clinical entity to adult ON. Although in children ON is usually parainfectious or postinfectious, it can be the first presenting feature of multiple sclerosis or neuromyelitis optica spectrum disease. In this paper, we discuss the literature on treatment of ON and prediction of risk of recurrence.

PHACE syndrome misdiagnosed as a port-wine stain.

We present the case of a boy born with a large macular, segmental vascular anomaly over the left face, initially diagnosed as a capillary malformation (port-wine stain) by the postnatal paediatric team. The vascular anomaly in the face then grew rapidly during the first few weeks of life and started to occlude the left eye, causing parental concerns about the infant's vision. A dermatological opinion established that the lesion was a segmental infantile haemangioma (IH). This, in combination with the posterior fossa malformation previously detected on antenatal scanning and confirmed by an MRI postnatally, satisfied the criteria for Posterior fossa abnormalities, Haemangiomas, Arterial abnormalities, Cardiac abnormalities and Eye abnormalities (PHACE) syndrome: a rare cutaneous neurovascular syndrome. This case highlights the diagnostic challenge posed by early phenotypes of haemangiomas as well as the importance of correctly diagnosing PHACE syndrome.

Intracranial hypertension presenting with severe visual failure, without concurrent headache, in a child with nephrotic syndrome.

BACKGROUND: Idiopathic intracranial hypertension is a condition typically characterised by headache, normal level of consciousness, papilloedema and raised cerebrospinal fluid pressure. Children often present with visual loss and atypical features of raised pressure, posing a diagnostic and management challenge. A range of renal disorders can predispose to developing this raised intracranial pressure syndrome. We present a case of severe visual failure in a child with nephrotic syndrome, with no headache when elevated pressure was proven. In nephrotic syndrome, visual failure related to elevated intracranial pressures without concurrent headache symptoms has not been reported previously. CASE PRESENTATION: We discuss a 5-year-old Caucasian girl with steroid sensitive nephrotic syndrome who went on to become a late non-responder and presented with intracranial hypertension. Following initial response to steroids, she had a relapse of her nephrotic syndrome; her proteinuria did not resolve on steroid treatment, requiring addition of cyclosporine therapy to manage her nephrotic syndrome. Three months following this, she presented with visual failure in the right eye with bilateral central scotoma and papilloedema. At the time of presentation of visual impairment, she was otherwise well, with no symptoms of a raised intracranial pressure syndrome or associated systemic illness. Medical management was initiated following confirmation of a raised intracranial pressure. Her intracranial pressure remained elevated requiring serial therapeutic lumbar punctures before some improvement in visual acuity was observed. Later in the clinical course, she presented with worsening of her visual impairment with further deterioration of the vision in the left eye, again associated with elevated intracranial pressure. An urgent surgical cerebrospinal fluid diversion procedure was performed. At review, three years after presentation our patient has severe visual impairment with no perception of light in her right eye and 6/36 Snellen acuity in the left secondary to optic atrophy. CONCLUSION: Our case demonstrates the occurrence of intracranial hypertension in nephrotic syndrome, highlighting the atypical presentation of severe visual failure without concurrent headache at presentation. This demonstrates the management complexities and the need for clear guidelines for ophthalmological surveillance to aim to reduce permanent visual impairment.

Hypertensive retinopathy in severely hypertensive children: demographic, clinical, and ophthalmoscopic findings from a 30-year British cohort.

PURPOSE: There is scarce data regarding the incidence and clinical features of hypertensive retinopathy in children. The authors studied a large British cohort of severely hypertensive children to ascertain who developed hypertensive retinopathy, the severity, and the visual prognosis. METHODS: A retrospective review was performed of children undergoing renal angiography for investigation of severe hypertension at a tertiary institution from 1980 to 2010. All relevant cardiovascular, radiologic, and ophthalmic information was collected from case notes of the children identified in the study period. The outcome measures were presenting blood pressure, presence/severity of hypertensive retinopathy, and visual outcome. RESULTS: Fifty-three severely hypertensive children were identified; 30 with renovascular disease (RVD+) and 23 without (RVD-). The majority had 'stage 2 hypertension.' There were no significant differences in age, gender, or blood pressure between RVD+ and RVD- children. Seven (18%) of the 39 children receiving ophthalmic assessment had hypertensive retinopathy, of whom 6 had severe disease (retinal hemorrhages, exudates, and optic disc edema). There was a trend toward a higher prevalence of hypertensive retinopathy in the RVD+ group (n = 5) but this was not statistically significant. Children with hypertensive retinopathy had higher blood pressure than those without (median: 216/158 vs 150/98 mm Hg, P < .001). CONCLUSIONS: This is the first study examining the incidence and characteristics of hypertensive retinopathy in British children with severe hypertension. The authors found an 18% incidence of hypertensive retinopathy, in some cases with permanent visual reduction.

CSF diversion in refractory idiopathic intracranial hypertension: single-centre experience and review of efficacy.

PURPOSE: The current surgical management strategies for refractory cases of idiopathic intracranial hypertension (IIH) remain unresolved. We evaluated the outcome of our paediatric patients who were offered a CSF diversion procedure in order to control their symptoms. METHODS: We retrospectively reviewed the medical notes of the patients under 16 years of age, who presented in our centre from 2005 to 2010, with a confirmed diagnosis of IIH, and ultimately had a lumboperitoneal shunt (LPS). We describe their immediate postoperative course, shunt-related complications and recent outcome. RESULTS: Seven patients presented at a mean age of 8.7 years. Two presented with significant visual loss and had a shunt acutely; the remaining five presented with headaches and were shunted within 2 years. In the immediate postoperative period two patients experienced low-pressure symptoms. All patients required shunt revisions; in total 15 revisions took place, mainly secondary to symptomatic overdrainage or obstruction. After a mean follow-up of 26 months, two patients have diminished visual acuity at least on one side; only one patient became headache-free, despite resolution of the CSF pressure post diversion in four out of the six remaining patients. CONCLUSIONS: All patients required shunt revisions and 6/7 (85.7%) had persisting headaches at their last follow-up. It is apparent that once functional, the LPS seems adequate to lower the CSF pressure but not effective in eliminating symptoms.

Schwartz-Jampel syndrome: surgical management of the myotonia-induced blepharospasm and acquired ptosis after failure with botulinum toxin A injections.

A 6-year-old boy with Schwartz-Jampel syndrome and severe myotonia-induced blepharospasm and ptosis did not respond to botulinum toxin A injections in the orbicularis muscle. The clinical diagnosis was further supported by electromyography. Surgical management using a combination of techniques in one operation produced a satisfactory result for both function and appearance. Muscle biopsy was also done during surgery.

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.

PURPOSE: To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6. METHODS: The two exons of the SIX6 gene were amplified by PCR from patients' genomic DNA and directly sequenced to search for mutations. The PCR products of 75 patients were also analyzed by denaturing high-performance liquid chromatography (DHPLC). RESULTS: Six SIX6 polymorphisms were identified in the patient panel. Three of these polymorphisms change the encoded amino acid. However, all six polymorphisms were also identified in unaffected individuals. There was no statistically significant difference in genotypes between patients and control subjects. CONCLUSIONS: No evidence was found that SIX6 mutations underlie human congenital structural eye malformations.