Benign Solitary Fibrous Histiocytoma of Xanthomatous Subtype of the Perilimbal Conjunctiva and Adjacent Sclera in a Youth.

AIMS: To report the clinical and pathological features of a benign fibrous histiocytoma of the xanthomatous subtype in the perilimbal conjunctiva and adjacent sclera in a youth. METHODS: An 11-year-old Caucasian boy presented with a yellowish dome-shaped conjunctival mass abutting the inferotemporal limbus of the left eye. The tumor measured 4 mm in its maximum diameter. The lesion was excised and was noted to extend into the sclera. Three years postoperatively, there was no evidence of recurrence. RESULTS: Histopathological examination disclosed a highly cellular lesion composed predominantly of benign-appearing foamy histiocytes without multinucleated giant cells. The tumor contained sparse fibrous septa without a storiform configuration. Immunohistochemical analysis showed diffuse cytoplasmic positive staining with adipophilin, CD34, and CD163. CONCLUSION: A lesion comprised of numerous homogeneous foamy histiocytes without multinucleated giant cells in the perilimbal conjunctiva and adjacent sclera of a youth is presented as a unique case of a rare variant of fibrous histiocytoma of the xanthomatous subtype.

Langerhans cell histiocytosis in an 18-month-old child presenting as periorbital cellulitis.

Langerhans cell histiocytosis (LCH) is a rare multi-system disease. It presents infrequently as a childhood orbital tumor, and can mimic more common inflammatory orbital disease processes. We report the clinical, histopathological, and electron microscopic findings of orbital LCH in an 18-month-old child, along with a review of the recent literature regarding molecular pathogenetic analysis of LCH. The child presented with a two-week history of progressive left periorbital edema and redness. He was initially diagnosed and treated empirically for bacterial periorbital cellulitis, but subsequently underwent ophthalmological consultation after he failed to improve. Histopathological examination of an orbital biopsy specimen revealed numerous Langerhans-type cells, which stain positive for CD1A and CD207 (langerin). Electron microscopic examination demonstrated characteristic Birbeck granules within the Langerhans-type cells. Three year follow-up did not demonstrate recurrence or disease progression.

Simultaneous central retinal artery occlusion and optic nerve vasculitis in Crohn disease.

PURPOSE: To describe a case of Crohn disease presenting as occlusive vasculitis resulting in a central retinal artery occlusion (CRAO) in one eye and transient ischemic optic neuropathy in the fellow eye. OBSERVATIONS: An 18-year-old patient recently diagnosed with biopsy-proven Crohn disease presented with CRAO OD after a previous episode of transient visual loss OS. Extensive workup was negative for other autoimmune or infectious etiologies. The patient was started on intravenous methylprednisolone for 72 h followed by maintenance dose of azathioprine and oral prednisone. Signs of inflammation resolved gradually with some improvement of visual acuity despite developing optic atrophy. CONCLUSIONS AND IMPORTANCE: To our knowledge, this is the first case of unilateral CRAO and bilateral optic nerve occlusive vasculitis in Crohn disease, which should be considered as an etiology of retinal vascular occlusive disorders especially in young patients. It is important for ophthalmologists to be aware of the ophthalmic risks associated with Crohn disease as aggressive treatment with systemic steroids and immunosuppressive agents is often needed.

Long-term outcomes of sutureless 25-G+ pars-plana vitrectomy for the management of diabetic tractional retinal detachment.

PURPOSE: To evaluate the short- and long-term surgical and clinical outcomes in eyes with diabetic tractional retinal detachment (TRD) undergoing 25-G+ pars-plana vitrectomy (PPV). METHODS: A total of 238 patients were reviewed for inclusion in this study. A retrospective cohort study of 109 eyes of 73 patients operated on for diabetic TRD were included. All eyes received intraocular tamponade of air, sulfur hexafluoride, octofluropropane or silicone oil. All patients were followed up for a minimum period of one year. RESULTS: The mean age of all patients at surgery was 53.9 years ± 9.2, while the mean duration of diabetes was 18.7 ± 10.4 years. The mean length of follow-up was 923 ± 87 days after surgery (range, 432-1792 days). Thirty-two cases (29.3 %) had an associated rhegmatogenous component. Mean BCVA improved from logarithm minimum angle of resolution (logMAR) 1.17 (20/300) to 0.812 (20/130) (p < 0.05). All eyes underwent intraoperative laser photocoagulation. Primary, single-surgery anatomic reattachment was achieved in 99 eyes (91 %). Final anatomic attachment was achieved in 107 eyes (98 %). There was no statistically significant difference in primary or secondary re-attachment rate in terms of type of tamponade agent used. There were five cases of post-operative hypotony (≤5 mmHg) on postoperative day 1, while 11 eyes had IOP ≥ 30 mmHg. There were no cases of endophthalmitis in our cohort. CONCLUSIONS: 25G+ PPV provides for safe and effective repair of diabetic TRDs. Patients experienced positive functional and anatomic outcomes, with no significant intraoperative complications and minimal postoperative sequelae.

Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

OBJECTIVE: The natural history of succinic semialdehyde dehydrogenase (SSADH) deficiency in adulthood is unknown; we elucidate the clinical manifestations of the disease later in life. METHODS: A 63-year-old man with long-standing intellectual disability was diagnosed with SSADH deficiency following hospitalization for progressive decline, escalating seizures, and prolonged periods of altered consciousness. We present a detailed review of his clinical course and reviewed our SSADH deficiency database adult cohort to derive natural history information. RESULTS: Of 95 patients in the database for whom age at diagnosis is recorded, there are 40 individuals currently aged 18 years or older. Only 3 patients were diagnosed after age 18 years. Of 25 adults for whom data are available after age 18, 60% have a history of epilepsy. Predominant seizure types are generalized tonic-clonic, absence, and myoclonic. EEGs showed background slowing or generalized epileptiform discharges in two-thirds of adults for whom EEG data were collected. History of psychiatric symptoms was prominent, with frequent anxiety, sleep disturbances, and obsessive-compulsive disorder. CONCLUSIONS: We identified patients older than 18 years with SSADH deficiency in our database following identification and review of a patient diagnosed in the seventh decade of life. The illness had a progressive course with escalating seizures in the index case, with fatality at age 63. Diagnosis in adulthood is rare. Epilepsy is more common in the adult than the pediatric SSADH deficiency cohort; neuropsychiatric morbidity remains prominent.