Ophthalmologic Lesions Research Articles

Combined Central Retinal Artery and Vein Occlusion-like Manifestations with Aplastic Anemia: Unveiling Pathophysiological Insights

Purpose: To report the association of a combined central artery and vein occlusion (CCRAVO)-like pattern with aplastic anemia and discuss the pathophysiology associated with ophthalmologic examinations. Methods: We report a female patient with aplastic anemia who presented with retinal hemorrhage, blurred optic disc margins, retinal whitening, peripapillary subretinal fluid, and venous engorgement. The authors described the evolution of ophthalmologic lesions in correlation with improvements in systemic conditions. Results: We discuss and correlate the ophthalmological findings of this patient (optic disc edema, vascular engorgement, subretinal fluid, among others) with the pathophysiology of Aplastic Anemia based on current literature. Conclusion: These findings provide a better understanding of the pathophysiology of this rare disease. In certain cases, ophthalmologic symptoms can be the first presentation, underscoring the importance of reporting ocular findings for the recognition of this disease, which entails significant systemic involvement.

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases.

Autoinflammatory diseases include disorders with a genetic cause and also complex syndromes associated to polygenic or multifactorial factors. Eye involvement is present in many of them, with different extent and severity. The present review covers ophthalmological lesions in the most prevalent monogenic autoinflammatory diseases, including FMF (familial Mediterranean fever), TRAPS (TNF receptor-associated periodic syndrome), CAPS (cryopyrin-associated periodic syndromes), Blau syndrome, DADA2 (deficiency of adenosine deaminase 2), DITRA (deficiency of the interleukin-36 receptor antagonist), other monogenic disorders, including several ubiquitinopathies, interferonopathies, and the recently described ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome, and VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Among polygenic autoinflammatory diseases, ocular manifestations have been reviewed in Behçet's disease, PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) syndrome, Still's disease and autoinflammatory bone diseases, which encompass CRMO (chronic recurrent multifocal osteomyelitis) and SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome.

A prospective study on neonatal ophthalmic injuries associated with forceps delivery

Assisted delivery by forceps is needed to expedite vaginal delivery in certain maternal and fetal conditions. The aim of this study was to evaluate the incidence and the extent of ophthalmological injuries in neonates after forceps delivery. Women with cephalic fetuses delivered vaginally by forceps from July 2020 to June 2022 were recruited prospectively. Ophthalmologists would be consulted when there were signs of external ophthalmic injuries, such as periorbital forceps marks or facial bruising. Demographic data, pregnancy characteristics, delivery details, and perinatal outcomes were evaluated to identify any associated risk factors for neonatal ophthalmological injuries. A total of 77 forceps deliveries were performed in the study period, in which 20 cases (26%) required ophthalmological consultations. There were more right or left occipital fetal head positions in the group requiring ophthalmological assessment than those that did not require assessment (35% vs 12.3% [P = 0.023]). The degree of moulding of the fetal head was more marked in the former group (65% vs 28% [P = 0.001]). The overall incidence of detectable ophthalmological lesions was 16.9% (13/77). All ophthalmic injuries were mild, and most resolved with conservative management. In our study cohort, external ophthalmic injuries were common after forceps delivery. We recommended ophthalmological consultation in newborns delivered by forceps with evidence of compressive trauma to rule out serious ophthalmological trauma.

DP10 A relapsing–remitting rash with associated neurological symptoms: a rare presentation of ​­neuro-Sweet syndrome

Abstract A 46-year-old woman presented with an 8-week history of an asymptomatic eruption on her upper extremities and back. She had a history of ulcerative colitis, asthma and hyposplenism. There had been no changes to her regular medications. Over the next 3 years, she developed a relapsing and remitting course of headaches, pyrexia and feeling unwell with the associated rash. She further developed deafness and vertigo and was admitted with headaches, blurred vision and paraesthesia of the fingers. Physical examination revealed multiple erythematous, asymptomatic, annular plaques present on her upper extremities and back with no oral, genital or ophthalmological lesions. Skin biopsy from the lesion on the upper back showed a neutrophilic dermatosis with mildly acanthotic epidermis, superficial dermal collection of acute inflammatory cells, dermal oedema and endothelial swelling, with no evidence of vasculitis. This was considered in keeping with Sweet syndrome. Magnetic resonance imaging of the brain revealed meningoencephalitis and focal cerebritis. A lumbar puncture performed for infection was negative. Following this, a diagnosis of neuro-Sweet syndrome (NSS) was made. She has responded well to oral steroids and is currently well controlled on dapsone. To date, extensive malignancy screens have been negative. Sweet syndrome, or acute febrile neutrophilic dermatosis, is characterized by fever, malaise, leucocytosis and painful distinctive skin lesions and may be associated with malignancies, drugs and infection. Skin biopsy shows dense dermal infiltration of neutrophils without any histological signs of vasculitis. Sweet syndrome is known to involve multiple organs; however, involvement of the central nervous system (CNS) is rare. When the CNS is involved, it is referred to as NSS and is defined as the coexistence of characteristic skin lesions of Sweet syndrome with encephalitis or meningitis (Suh HB, Kim HJ. Recurrent neuro-Sweet disease associated with preceding upper respiratory infection: a case study. iMRI 2018; 22:187–93). Although the condition is usually steroid responsive, disease recurrences have been reported in 50% of cases in the literature (Hisanaga K, Iwasaki Y, Itoyama Y, Neuro-Sweet Study Group. Neuro-Sweet disease: clinical manifestations and criteria for diagnosis. Neurology 2005; 64:1756–61). It is important to note that the clinical features and imaging results in NSS are similar to those of neuro-Behçet disease (NBD), and it is important to distinguish between the two as CNS involvement in NSS is often transient, whereas NBD often follows a more progressive course. We report a rare case of NSS and highlight that NSS should be considered by dermatologists in patients presenting with recurrent skin lesions of Sweet syndrome and associated neurological symptoms.

Ophthalmological lesions in shaken baby syndrome: A retrospective analysis of 133 consecutive cases (1992–2018)

IntroductionShaken Baby Syndrome (SBS) is a non-accidental head trauma in which shaking causes cranio-cerebral lesions. Shaking can lead to ophthalmologic lesions such as retinal hemorrhage (RH). The aim of the present study was to compare our long-term results in to the literature data. Patients and MethodsThis study was a single-center retrospective descriptive analysis of 133 consecutive SBS cases (1992–2018). Only seniors in ophthalmology were authorized to perform these examinations. We studied type of lesion (retinal, intra-vitreal, papilledema), location (uni- or bi-lateral), and correlation with gender and age. Infants with a traumatic context without suspicion of child abuse were excluded. ResultsMean age at diagnosis was 131days (range, 14days–10months). Boys accounted for 72.2% of the population. The prevalence of ophthalmologic lesions was 70.3%. 94.4% were RH; intra-vitreous hemorrhage (6.7%) and papilledema (11.1%) were less frequent. Lesions were bilateral in 81.1% of cases. Retinal lesions were classified in terms of location. Macular involvement was diagnosed in 8.2% of cases. 18.8% of retinal lesions could not be classified because of lack of precision in the ophthalmology report. The prevalence of ophthalmic lesions was higher for children aged over 6months: 80%. ConclusionThis series highlighted a high rate of ophthalmic lesions in SBS, with a high rate of bilateral involvement. RH was the most frequent lesion. RH in a context of subdural hematoma is a strong argument in favor of SBS. The forensic implications are that rigorous ophthalmologic examination by a senior practitioner is mandatory.

Evaluation of diagnostic performance of haematological parameters in Behçet's disease.

Behçet's Disease (BD) is a polygenic and chronic autoinflammatory multisystemic vasculitis disease characterised by mucocutaneous, musculoskeletal, neurological, gastrointestinal and ophthalmologic lesions. There has been no specific test or serum marker to measure and determine the diagnosis and severity of BD. The study aimed to investigate the diagnostic performance of haematological parameters as MLR (monocyte to lymphocyte ratio), NLR (neutrophil to lymphocyte ratio), PLR (platelet to lymphocyte ratio), MPV (mean platelet volume), MPVPR (mean platelet volume to platelet ratio), LMR (lymphocyte to monocyte ratio), LPM (lymphocyte and platelet multiplication), WLP (lymphocyte and leukocyte multiplication), RDW (red blood cell distribution width) and PCT (plateletcrit) in BD and compare these with disease activity and clinical findings. A total of 266 participants (49 healthy control and 217 BD patients) were recruited from the rheumatology department in a single-centre as a case-control study. The laboratory data were obtained from the electronic registration database. BD Activity scores (BDCAF/Behcet's Disease Current Activity Form) were calculated. Laboratory findings of BD patients and healthy controls were compared and evaluated. RDW, Platelet, PCT, NLR and PLR values were significantly higher in patient group than in the healthy controls. However, haemoglobin, MPVPR and LMR were significantly lower in the patient group which compared with the healthy controls. LPM in BD with genital ulcers, WLP in BD with genital ulcers and arthritis, MPR in BD with uveitis, RDW in BD with thrombosis and neuro-Behçet's disease (NBD), PLR in NBD were observed to be higher. However, LMR in NBD and MPV in BD with thrombosis were lower than those without. There was a positive correlation between BDCAF score and RDW, and NLR. Haemoglobin, RDW, Platelet, PCT, NLR, LMR, PLR and MPVPR were statistically significant predictors for BD. RDW, PCT and NLR are the most valuable predictors for BD.

Management strategy and novel ophthalmological findings in neonatal severe hypertriglyceridemia: a case report and literature review

BackgroundNeonatal severe hypertriglyceridemia is rarely reported in the literature and there is no consensus for hypertriglyceridemia management at this age group.MethodsThe index case is a 4-week-old male infant with severe hypertriglyceridemia accidentally discovered during a circumcision surgery. His clinical and genetic characteristics and his successful management strategy are described. Furthermore, a detailed ophthalmological examination of the proband was conducted at 3 and 6 months of age using Fourier-domain-optical coherence tomography.ResultsTriglycerides level at presentation was extremely high 33,727 mg/dL (380.8 mmol/L). Two sessions of exchange blood transfusion on two consecutive days successfully reduced triglycerides to 382 mg/dL (4.3 mmol/L) with no adverse effects. The infant was discharged 3 days later. At discharge, the mother was advised to continue breastfeeding together with a medium-chain triglycerides formula. Satisfactory growth parameters and lipid profile values were obtained for a follow-up duration of 5 months with no reported attacks of acute pancreatitis. Lipoprotein lipase deficiency was confirmed by the detection of the LPL homozygous pathogenic variant c.805G > A; p.(Glu269Lys). Early corneal and macular lesions were detected and persisted on follow-up despite relatively good lipemic control.ConclusionThis case highlights the importance of the early discovery of severe hypertriglyceridemia during the neonatal period, which is needed for prompt management and prevention of severe complications. Rationalized breastfeeding can be tolerated within the diet plan of the disease with satisfactory outcomes. To our knowledge, it is the first study reporting early corneal and macular affection by severe hypertriglyceridemia in a neonate. Prolonged follow-up is needed to determine the extent of ophthalmological lesions.

Penetrating Orbitocranial Injury With a Good Aesthetic and Functional Outcome: A Case Report

Background and Importance: Transorbitocranial assaults with sharp objects like a knife are rare neuro-ophthalmologic emergencies. However, they can have dramatic functional and life-threatening consequences. Our presentation aims to report the importance of an urgent multidisciplinary approach and to raise awareness among the general population on the importance of preventing violent behavior. Case Presentation: A 33-year-old man was a victim of a knife attack without obvious brain or ophthalmological lesions. The knife entered the medial part of the orbit. Neurological examination was normal, and Computed Tomography (CT) scan showed intracranial trajectory through the orbit to the frontal horn of the lateral ventricle. The knife was extracted without complications. The patient reported spectacular improvement in visual acuity without neurological or oculomotor deficit at long-term follow-up. In this case report, we will discuss the radiological diagnosis and surgical management of transorbital and orbitocranial injuries by foreign body penetration. Conclusion: Urgent multidisciplinary management in orbitocranial trauma by stabbing is mandatory to avoid life-threatening complications and irreversible damages.

ERYTHEMA MULTIFORME: A CASE REPORT

A 38-year-old man, user of illicit drugs, cannabis smoker, and alcoholic, presented an evolution of cutaneous, oral, and ophthalmologic lesions a few hours after the use of 5 to 8 tablets of amphetamine and alcohol. In 2011, a similar condition was reported after ingestion of cephalexin. Erythematous macules and papules were observed in the lower and/or upper limbs, dorsum, trunk, and genitalia, with areas of central necrosis (bulls-eye aspects). In the oral examination, multiple shallow ulcers were observed, covered by exudate in multiple sites of the oral mucosa. The diagnosis was erythema multiforme. The patient was treated at the hospital with corticoids, analgesic, and antibiotics. Dental team applied laser therapy (λ660 nm, 100 mW, 1 J, 10 s/point, 0.0028 cm² spot) every day and prescribed mouthwashes (0.05% clobetasol propionate, 2 times/d) until hospital discharge. Drug use may trigger severe manifestations of erythema, with a risk of progression to Stevens-Johnson syndrome. The multiprofessional approach was crucial in this case.

Congenital toxoplasmosis: when a screening is missed

Congenital toxoplasmosis occurs in 1:1000 to 1:10000 live births and the spectrum of manifestations is wide. We report a case of male infant with confirmed congenital toxoplasmosis infection after seroconversion between the 2nd and 3rd trimester. Despite having started adequate treatment after birth, ophthalmological lesions were permanent. The benefit of maternal treatment is not well established and prevention should be the key. Introduction: Transplacental transmission of Toxoplasma gondii is responsible for congenital toxoplasmosis. The variant parasite prevalence throughout the world, along with different national maternal screening programs, explains that the estimated incidence of this infection is of 1:1000 to 1:10000 live births. The risk of infection depends on the timing of maternal infection, increasing during the course of pregnancy and reaching a 65-71% risk in the third trimester[1],[2]. The gestational age at the time of maternal infection also accounts for the ample clinical outcome, being more severe in the early stages of fetus development, when it can lead to spontaneous abortion or stillbirth. Although congenital toxoplasmosis is subclinical in 75% of infected newborns1, the spectrum of manifestations is wide, going from hearing loss and ophthalmological lesions to severe compromise of central nervous system.

Streptococcosis in freshwater farmed seabass Lates calcarifer and its virulence in Nile tilapia Oreochromis niloticus

This study investigated disease outbreaks caused by Streptococcus iniae in freshwater pond-cultured seabass Lates calcarifer in Thailand. The affected fish exhibited typical signs of streptococcal infection except for the ophthalmological lesions. Four putative S. iniae isolates (CU/KSC1, CU/KSC2, CU/KSC3 and CU/KSC4) were identified based on phenotypic characteristics and PCR amplification of the 16S rRNA gene. Phylogenetic analysis of the partial (1234 bp) 16S rRNA nucleotide sequences revealed that CU/KSC1–3 clustered within the group of S. iniae previously reported from diseased Nile tilapia in Thailand, while CU/KSC4 was more distant. Infectivity trials in seabass fingerlings (approximately 7 g bodyweight) via intraperitoneal injection (IP) showed >60% accumulative mortality (63.3–83.3%) in the fish that received 106 colony forming units (CFU) fish−1 of either isolate at 10 d post infection (dpi). A similar IP challenge protocol using the most virulent isolate (CU/KSC4) was conducted to examine the pathogenicity of the seabass isolate in Nile tilapia Oreochromis niloticus. A lower mortality, compared to that of the laboratory infected seabass, was observed in Nile tilapia, where the mortality at 10 dpi was 26.7, 30 and 33.3% in Nile tilapia receiving S. iniae at 10 (Bromage and Owens, 2002), 106 and 107 CFU fish−1, respectively. Moreover, S. iniae was re-isolated from the kidney of both affected fish species, but not from the surviving fish. However, the intestines obtained from these survivors were PCR positive for S. iniae, giving the possibility that the bacteria may be excreted into the rearing water via feces. To our knowledge, this is the first report of S. iniae isolated from disease occurrences in freshwater-inland cultured seabass in Thailand.

Chapter 7 - Inherited genetic syndromes and meningiomas

Meningiomas arising with inherited genetic syndromes occur nearly exclusively in the context of neurofibromatosis type 2 (NF2). NF2 is an autosomal dominant familial neoplasia syndrome that results from a mutation in the NF2 tumor suppressor gene located on the long arm of chromosome 22. The NF2 gene encodes for the protein merlin (moesin-ezrin-radixin-like protein), which has tumor suppressive effects that are reduced/inactivated in NF2-associated tumors. NF2-associated neoplasms affect the nervous system (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas) and skin. Other NF2 findings include ophthalmological lesions and peripheral neuropathy. Meningiomas are the second most frequent NF2-associated tumors (occurring in approximately half of all NF2 patients). They are often multiple and have unpredictable growth patterns. NF2-associated meningiomas can cause significant morbidity and mortality due to their location and a mass effect. Because of the multiplicity, frequent development of new tumors, and their protean nature, defined treatment strategies with serial surveillance is critical for optimal management of NF2-associated meningiomas. While surgical resection is the primary treatment for NF2-associated meningiomas, radiation plays an important adjunctive role in the management of recurrent and inoperable meningiomas.

Orbital complication of acute ethmoiditis: A Tunisian paediatric cross sectional study.

The anatomical and developmental particularities of sinus cavities in paediatric population lead acute ethmoiditis to be the earliest form of sinusitis in children. Orbital complications are frequent and could lead to visual and neurological impairment. This study investigated the clinical, biological and radiological features of orbital complications. We identified the predictive factors of severe ophthalmological lesions and/or associated cerebral complications of acute ethmoiditis. This cross sectional study included all patients identified as having orbital extension of acute ethmoiditis in the database of a single academic paediatric care centre over a period of 14 years. All orbital and cerebral Scans of the included patients were reviewed and the cohort was classified using Chandler's classification as having less severe lesions (Chandler's 1 and 2) or more serious lesions (Chandler's 3, 4 and 5). In total, 16 patients (12 girls and 4 boys) were included among 39 consecutives cases of ethmoiditis recessed with a complication rate of 41%. Average consultation delay was 4.88 days. The mean age was 4.37 years. Fever was objectified in 13 cases (81%). Six patients (37.5%) had exophthalmos. Orbital extension spectrum was: stage I (n = 4, 25%), stage II (n = 4, 25%), stage III (n = 6, 37.5%), stage IV (n = 1, 6.5%), stage V (n = 1, 6.5%) and intra cranial extension was associated in two cases. Univariate analysis showed that fever, exophthalmos, ophthalmoplegia, positive CRP, age and white blood cells count were not associated with more severe lesions in the CT scan. Initially, all children received intravenous antibiotic treatment. Association of multiple antibiotics was prescribed in 75% of the cases. With 21.07 days ± 5.51 days as a total treatment duration. Only Four patients underwent surgical treatment. Orbital complications of ethmoiditis are frequent. No clinical or biological criteria seem to predict the severity of orbital lesions. Both orbital and brain CT scan could help detect eventual complications on time to adapt antibiotic treatment and eventually bring forward surgical intervention.

Stevens-Johnson syndrome and toxic epidermal necrolysis - retrospective review of cases in a high complexity hospital in Brazil.

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare conditions characterized by epidermal necrosis, mostly caused by drugs. Despite the rarity of these conditions, morbidity and mortality are high (even in previously healthy patients), and they may be associated with permanent sequelae. A retrospective study conducted at a quaternary hospital in Brazil in a period of 10years. The sample was composed by 41 patients with SJS, SJS/TEN, and TEN confirmed by skin biopsy. Antibiotics and anticonvulsants were the most frequently implied drug classes, and phenytoin was the most important individual culprit drug. In this study, 12.2% of the patients had sequelae, being ophthalmological lesions the most common and one case of a newly described hearing loss. The mortality rate was 16.7% in patients with TEN. This study describes the largest Latin American case series of SJS and TEN with the diagnosis proven by skin biopsy and adds important data regarding the profile of the disease in Brazil. It also describes a novel sequelae of hearing loss.

English

Five case histories are presented. Waldenstrom's macroglobulinaemia caused bilateral central retinal vein occlusion, proptosis was the presenting feature of retro-orbital plasmacytoma in relapsed multiple myeloma, a red painful eye was due to neovascular glaucoma in primary polycythaemia, bilateral VIth nerve palsy caused convergent squint and diplopia in meningeal relapse of acute lymphoblastic leukaemia and lymphoma of the eyelid caused complete ptosis. Interdisciplinary management is described. Ophthalmological lesions in haematological disease should be promptly recognized and managed. Collaboration between ophthalmology and haematology departments may be effective for palliative management.

Concurrent presence of buccal mucosal and ophthalmologic lesions in Behcet's syndrome.

Background:Behcet’s syndrome is a disease with different aspects in its clinical manifestations. The purpose of this study was to evaluate the simultaneous presence of oral mucosal and ophthalmologic lesions in patients with Behcet’s syndrome.Methods:From April 2012 to December 2014, 50 cases of Behcet’s syndrome who referred to the Departments of Ophtalmology, Oral Diseases and Infectious Diseases of Babol University Medical Sciences were entered into the study. The diagnosis of the disease was performed using the Iranian criteria for the diagnosis of Behcet’s syndrome. The demographic findings as well as clinical manifestations were recorded.Results: Thirt-six (72%) were males and 14 (28%) were females. The mean age of the patients was 35.6±9 years. Oral aphthous (94%), ocular lesion (76%) and genital ulcers (70%) were the most clinical findings. The clinical onset of the disease in 43 (86%) was oral lesions and in 5 (10%) was ocular lesions. Among the forty-eight cases with oral lesions, 77% had ocular lesions concurrently. HLA-B5 was positive in 35 (70%) cases. Ocular lesion was seen in 33 of 35 (91.4%) cases versus 6 of 15 (40%) with HLA-B5 positive and negative cases, respectively (p<0.05). Oral lesion was seen in 94.3% cases with positive HLA-B5 and in 100% cases with negative HLA-B5 (p>0.05).Conclusions: The results show that concurrent ophthalmic and oral lesions in Behcet’s syndrome are relatively high. HLA-B5 positive cases are associated with more ophthalmologic lesions.

Sarcoidosis in Patients Treated with Vemurafenib for Metastatic Melanoma: A Paradoxical Autoimmune Activation

Background: Vemurafenib, a BRAF inhibitor, is a first-line treatment for inoperable melanoma. Sarcoidosis has never been reported in patients on vemurafenib. Objectives: We describe 5 cases of sarcoidosis in patients treated with vemurafenib. Methods: Seventy patients receiving vemurafenib for a BRAF-mutated inoperable stage III or IV melanoma were treated in our centre. Results: Five patients (7.1%) developed sarcoidosis or a sarcoid-like reaction on vemurafenib; 4 patients had cutaneous signs and 3 had extracutaneous disorders (bilateral hilar lymph nodes, uveitis). Histological analysis of skin lesions revealed epithelioid granulomas without necrosis, consistent with sarcoidosis. Angiotensin-converting enzyme levels were high in 2 patients. Cutaneous and ophthalmological lesions rapidly disappeared on topical corticosteroid treatment without the cessation of vemurafenib treatment. Complete remission of melanoma was observed in 3 patients and partial remission was observed in another. Conclusion: BRAF inhibitors probably have immune system-enhancing effects and should therefore be recognized as potential inducers of sarcoidosis.

Neurofibromatosis Type 1 Revealed by Ophthalmologic Complications: A Report of One Case in Ouagadougou, Burkina Faso

Type 1 neurofibromatosis is an inherited multisystem neurocutaneous disease predisposing to tumors development. Serious skin and ophthalmologic complications, although rare, can occur throughout life. Furthermore in children, unawareness of early symptoms may delay diagnosis. We report the case of A.T. 8 years old, admitted for exophthalmosis and facial deformity dating back to the age of 2 years. The diagnosis of neurofibromatosis was suspected in the presence of light brown skin spots scattered all over the body and subcutaneous nodules. Ophthalmologic examination revealed bilateral exophthalmosis, eyelids neurofibromas, blepharoptosis, Lisch nodules, corneal edema, and optic atrophy. Head CT scan clarified the nature and the extent of ophthalmologic lesions. Treatment was symptomatic. Neurofibromatosis is rarely reported in children in our setting; it is probably under diagnosed. Clinicians should think of this diagnosis in presence of certain specific symptoms and make a clinical assessment.

Cesarean delivery or induction of labor does not prevent vertical transmission of toxoplasmosis in late pregnancy

Toxoplasmosis during pregnancy can have deleterious effects on the fetus, ranging from severe neurologic or ophthalmologic lesions to fetal loss. In some cases, infection appears subclinical at birth but patients are at risk of developing chorioretinitis [1]. The stage of pregnancy at maternal infection is the main predictive factor for the risk of fetal toxoplasmosis and its severity [2]. For third trimester infections, the placental barrier is less efficient than at the beginning of pregnancy, and the risk of fetal infection reaches 58% [3]. Conversely, the severity of the disease is inversely related because the majority of newborns are asymptomatic. The management of maternal infections in the first and second trimesters is well codified, relying on amniocentesis to determine treatment with pyrimethamine and sulfonamides. The approach is less standardized for later maternal infections. Because of the high risk of congenital infection, obstetricians might consider performing cesarean delivery or induction of labor to prevent the risk of vertical transmission by reducing the length of fetal exposure to the parasite. The present study reports a series of 10 infants born tomothers who became infected with Toxoplasma gondii between 33 and 39 weeks of pregnancy (median, 36 weeks) and for whom a cesarean delivery or induction of laborwasperformedbetween 38 and40weeks (median, 39 weeks) to protect the newborn from toxoplasmosis. The study covered the period from October 1994 to July 2012. Date of maternal infection was serologically confirmed in the department. No amniocentesis was performed and five women were treated with spiramycin (Table 1). The median delay between the estimated date of maternal infection and delivery was three weeks. Nine newborns were diagnosed with congenital toxoplasmosis, subclinical at birth in eight cases, and one had chorioretinitis. In third trimester infections, vertical transmission occurs rapidly after maternal infection and cesarean delivery or induction of labor, even when performed shortly after the estimated date of infection, is inefficient at preventing congenital toxoplasmosis. Another approach comprises presumptive treatment with sulfadiazine and pyrimethamine; however, at the end of pregnancy, 30% of children would be treated unnecessarily [2]. Amniocentesis allows parasitic detection by polymerase chain reaction, with sensitivity and specificity of 73.5% and 100%, respectively, during the third trimester [3], and should be performed whenever possible, with treatment prescribed only for positive cases. Toxoplasmosis in late pregnancy should bemanaged first by amniocentesis whenever feasible. Induction of labor or cesarean delivery does not prevent congenital toxoplasmosis. Comparedwith termbirths, early-term deliveries are associated with greater morbidity [4]. http://dx.doi.org/10.1016/j.ijgo.2014.11.013 0020-7292/© 2014 Published by Elsevier Ireland Ltd. on behalf of International Federation of Gynecology and Obstetrics.

Síndrome de Aicardi: estudio retrospectivo de una serie de siete casos

The Aicardi syndrome is a disorder presumably X-linked dominant, classically defined by the triad of agenesis of the corpus callosum, chorioretinal lacunae and infantile spasms, with lethality in males. Retrospective descriptive study of patients diagnosed with Aicardi syndrome over a period of 29 years in two tertiary pediatric hospitals. We found seven women that developed infantile spasms before 6 months of age, epileptic spasms persisting beyond infancy in two cases, a refractory symptomatic partial epilepsy in three patients, and well-controlled partial epilepsy in one girl. Six cases presented severe-profound mental retardation and moderate-severe in a girl. Two girls died at 2 and 6 years-old. In all patients neuroimaging studies showed agenesis of the corpus callosum, intracranial cysts and malformations of cortical development. Ophthalmological lesions were chorioretinal lacunae in seven cases, anophthalmia/microphthalmia in four girls and optic nerve coloboma in three patients. Other findings were congenital heart disease, costovertebral abnormalities, cervical lymphangioma and focal hypertrichosis. The Aicardi syndrome should be suspected in girls with infantile spasms and agenesis of the corpus callosum. It is necessary to rule out these ophthalmologic abnormalities, malformations of cortical development and intracranial cysts. The prognosis is poor due to its high mortality and its evolution to refractory epilepsy and profound mental retardation.