Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.

Identification of genetic causes of primary monogenic immunodeficiencies would strengthen the current understanding of their immunopathology. Pathogenic variants in genes in association with tumor necrosis factor α (TNFα) signaling, including OTULIN, TNFAIP3, RBCK1, and RNF31 cause human congenital autoinflammatory diseases with/without immunodeficiency. RIPK1, encoding a receptor interacting serine/threonine kinase 1, is present in protein complexes mediating signal transduction including TNF receptor 1. Biallelic loss-of-function variants in RIPK1 were recently reported in individuals with primary immunodeficiency with intestinal bowel disease and arthritis. Here, we report a novel homozygous RIPK1 variant in a boy with immunodeficiency and chronic enteropathy. Our patient exhibited severe motor delay and mild intellectual disability, which were previously unknown. The present results are expected to deepen the current understanding of clinical features based on RIPK1 abnormalities.

Epithelial-Myoepithelial Carcinoma of the Lacrimal Gland 14 Years After En Bloc Resection of a Pleomorphic Lacrimal Gland Adenoma.

Fourteen years after en bloc resection of an orbital pleomorphic adenoma, a 61-year-old female patient developed progressive left proptosis on the same side. A CT scan revealed a round, well-circumscribed, heterogeneously enhancing mass in the lacrimal fossa of the left orbit without calcification or bone erosion. An MRI scan showed a lesion that was hypointense on T1-weighted images and heterogeneously isointense on T2-weighted images. The tumor was completely resected through combined anterior and lateral orbitotomy. On histopathology, the specimen was identified as epithelial-myoepithelial carcinoma. After surgery, the patient received adjuvant therapy with irradiation of the orbit. At a 36-month follow-up evaluation, the patient remained tumor-free. Epithelial-myoepithelial carcinoma, a very uncommon tumor of the orbit, apparently behaves like a low-grade malignancy and is associated with good survival rates. However, a good prognosis for survival is tentative at best, in part because of the rarity of the lesion.

Imiquimod cream efficacy in the treatment of periocular nodular basal cell carcinoma: a non-randomized trial.

BACKGROUND: The recurrence rate of periocular nodular basal cell carcinoma (PNBCC) following treatment with imiquimod (IMQ) has not yet been established. Previous studies did not include histological follow-up. The aim of this analysis was to evaluate the efficacy of topical immunotherapy with 5% IMQ cream for the treatment of PNBCC. STUDY DESIGN: A prospective, non-randomized, and uncontrolled longitudinal case series study. No participants were blinded. Punch biopsy confirmed PNBCC patients were included at the Ophthalmology Clinic of São Paulo University Medicine School Hospital (from 2008 to 2012). Patients were treated with 5% IMQ cream once a day, 5 days per week, for 8-16 weeks. Standard lesion photographic documentation was done during the study. Three months after treatment ended, an image-guided biopsy was performed. Patients were followed at 6-month intervals and annually for control biopsies. Main outcome measures were clinical and histological clearance rates. Data were analysed by frequency distribution for qualitative group characteristics and central tendency measures for quantitative data. RESULTS: Twenty-four patients met the inclusion criteria, 19 of whom remained until the end of treatment. The histological clearance rate was 89.5% and 84.2%, respectively, at 3 and 39.5 months. The 3-year histological clearance rate was 81.8% (9/11) for lesions >10 mm, and 100% (8/8) for lesions <10 mm. Three patients did not tolerate the side effects of the medication and left the study. Two patients were excluded for treatment interruption related to comorbidities. CONCLUSIONS: Our results indicated that 5% IMQ cream was a useful alternative treatment for NBBCC, especially for lesions <10 mm. IMQ also showed a significant neoadjuvant effect on lesions >10 mm. TRIAL REGISTRATION: ClinicalTrial.gov Registration Dec 3, 2008: # NCT 00803907.

Efficacy and safety of topical 0.5% 5-Fluorouracil as primary treatment of ocular surface squamous neoplasia.

OBJECTIVE: To assess the efficacy and safety of topical 0.5% 5-Fluorouracil (5-FU) as a primary therapy of ocular surface squamous neoplasia (OSSN). DESIGN: Retrospective study. PARTICIPANTS: Patients with clinically suspected OSSN referred to a Brazilian tertiary health center between October 2015 and December 2022. METHODS: After diagnostic confirmation of OSSN with exfoliative cytology, 0.5% 5-FU was administered topically 4 times daily for 2 weeks followed by a pause of 2 weeks. RESULTS: A total of 54 patients were included in this study, 32 males (59.3%), mean age of 62.9 years old. Complete resolution of OSSN was achieved in 70.4%. The median number of cycles was 2 (range 1-5). Side effects were reported in 35.2%, which included eyelid erythema, conjunctival hyperemia, and punctal stenosis. None of the patients stopped treatment due to adverse effects. Patients who had partial response to 0.5% 5-FU had complementary treatment with surgery, Mitomycin-C and/or Interferon ⍺2b. Overall recurrence was 14.8%. Median follow-up was 14 months (range 2-92 months). In a multivariate Cox regression analysis, the risk of relapse was 84% lower in patients who had complete response to 0.5% 5-FU (p = 0.018). CONCLUSION: Topical 0.5% 5-FU may be considered a safe and effective primary therapy for OSSN, with a low rate of side effects.

Relationship between actinic keratosis and malignant skin lesions on the eyelid.

PURPOSE: To evaluate the variables possibly related to actinic keratosis and malignant skin lesions on the eyelid. METHODS: A prospective study of patients with suspected eyelid malignancy was conducted. The participants underwent a 2-mm punch biopsy at two opposite sites of the lesion for diagnosis, and the results were compared with those of the histopathological study of the surgical excised specimen. The patients with an actinic keratosis component were divided into two groups (actinic keratosis-associated malignancy and actinic keratosis alone), which were compared for the following variables: age, disease duration, largest diameter, tumor area, Fitzpatrick classification, sex, tumor site and margin involvement. A cluster analysis was also performed. RESULTS: We analyzed 174 lesions, of which 50 had an actinic keratosis component. Actinic keratosis was associated with squamous cell carcinoma in 22% of the cases and to basal cell carcinoma in 38%, which shows that both neoplasms may have contiguous actinic keratosis. Statistical analysis revealed no significant difference among the variables. In a cluster analysis, four groups were identified with malignant lesions in the medial canthus with the largest mean diameter and area. All margin involvements on the lower eyelid were related to malignancy, which means that all cases with margin involvement had an almost 100% risk of malignancy. CONCLUSIONS: Larger actinic keratosis lesions in the medial canthus and lesions with margin involvement on the lower eyelid have a greater probability of malignant association.

Is 2-mm punch biopsy useful in the diagnosis of malignant eyelid tumors?

PURPOSE: Two-millimeter punch biopsy is a swift and practical diagnostic tool in the outpatient setting. However, few studies have evaluated the efficacy of the method for diagnosis of malignant eyelid tumors. METHODS: This was an observational study of patients with suspicion of malignant eyelid tumor attending the Ocular Plastic Surgery Center at Hospital das Clínicas, University of São Paulo School of Medicine. Following standard procedures, preoperative biopsies were taken with a 2-mm trephine and surgical excision was performed with safety margins, followed by reconstruction. Anatomopathologic analysis of the surgical specimen was used as gold standard to evaluate the accuracy of diagnosis by punch biopsy. RESULTS: The study included 50 periocular tumors with suspicion of malignancy. The indicators of efficacy in the identification of malignancy by 2-mm punch biopsy were: sensitivity 88%, specificity 100%, positive predictive value 100%, and negative predictive value 64%. Accuracy was 90% for malignancy and 80% for histologic type. The κ index of agreement between the diagnostic methods was 0.722 (p < 0.001). CONCLUSION: A positive result with 2-mm punch biopsy is a safe indication for surgical excision of the tumor, whereas a negative result does not necessarily imply benignity. In cases of high clinical suspicion, a second biopsy should be taken from a different part of the tumor to rule out malignancy.

MASSIVE RETINAL NEOVASCULARIZATION IN VON HIPPEL-LINDAU DISEASE: ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR, VITRECTOMY, IMMUNOHISTOCHEMISTRY, AND OPTICAL COHERENCE TOMOGRAPHY FEATURES.

PURPOSE: To report a rare presentation of ocular von Hippel-Lindau disease associated with a massive epiretinal vascular proliferation over the macula removed by vitrectomy and submitted to histological analysis. METHODS: Interventional case report. RESULTS: A 13-year-old woman with von Hippel-Lindau disease reported progressive visual loss in the right eye over the preceding 6 months. Best-corrected visual acuity was 20/100 in the right eye. Fundoscopy showed retinal neovascularization (RNV) with macular traction and a small superotemporal hemangioblastoma. Spectral-domain optical coherence tomography confirmed increased macular thickness and macular traction secondary to RNV. Bevacizumab was injected intravitreally, resulting in partial regression of RNV. Five days after the injection, the patient underwent complete removal of fibrovascular proliferation via pars plana vitrectomy, followed by peripheral tumor photocoagulation. The specimen was subjected to histopathological and immunohistochemical analyses. At 2 years of follow-up, vision had improved to 20/30, and anatomical improvement was confirmed on both fundoscopy and spectral-domain optical coherence tomography. CONCLUSION: Ocular von Hippel-Lindau disease may be associated with RNV and macular traction. In such cases, RNV is likely responsive to anti-vascular endothelial growth factor and may be removed surgically along a cleavage plane between the tissue proliferation and the inner retina. In the reported case, the procedure was found to be safe and associated with macular anatomical improvement and vision recovery.

Blood Flow in Monocular Retinoblastoma Assessed by Color Doppler and Correlations With High-Risk Pathologic Features.

Purpose: To use color Doppler to analyze blood flow in the retrobulbar central retinal artery (CRA) and central retinal vein (CRV) in monocular retinoblastoma. Methods: This prospective study included patients with group D and E retinoblastomas managed with only enucleation. Peak blood velocities were assessed in the CRA and CRV of tumor-containing eyes (CRAv and CRVv, respectively). The resistivity index in the CRA (RIa) and pulse index in the CRV (PIv) were calculated and related to optic nerve invasion (ONi), choroid invasion (mCHi), and tumor volume. RIa and PIv were also calculated for healthy eyes. Results: In total, 25 patients with a mean age of 30.8-months old were included. The means (SD) for CRAv, CRVv, RIa, and PIv were 26.94 (12.32) cm/s, 16.2 (9.56) cm/s, 0.88 (0.12) and 0.79 (0.29), respectively. Tumor volume was significantly correlated with CRAv (P = 0.025) and RIa (P = 0.032). ONi was present in 19 eyes and correlated with a smaller PIv (P < 0.001). A PIv less than 0.935 had a sensitivity of 89.5% and specificity of 83.3% for predicting ONi. mCHi was not correlated with flow values. Healthy eyes had a significantly lower RIa (P < 0.001) and lower PIv than eyes with (P = 0.009) and without (P < 0.001) ONi. Conclusions: In advanced-stage monocular retinoblastoma, tumor volume was directly correlated with CRAv and RIa, and lower PIv was correlated with optic nerve invasion when a predictive cut-off value of less than 0.935 was applied. Comparisons with healthy eyes showed that tumor-containing eyes were associated with higher RIa and PIv values.

Relationship between actinic keratosis and malignant skin lesions on the eyelid / Relação entre ceratose actínica e lesões cutâneas malignas na pálpebra

ABSTRACT Purpose: To evaluate the variables possibly related to actinic keratosis and malignant skin lesions on the eyelid. Methods: A prospective study of patients with suspected eyelid malignancy was conducted. The participants underwent a 2-mm punch biopsy at two opposite sites of the lesion for diagnosis, and the results were compared with those of the histopathological study of the surgical excised specimen. The patients with an actinic keratosis component were divided into two groups (actinic keratosis-associated malignancy and actinic keratosis alone), which were compared for the following variables: age, disease duration, largest diameter, tumor area, Fitzpatrick classification, sex, tumor site and margin involvement. A cluster analysis was also performed. Results: We analyzed 174 lesions, of which 50 had an actinic keratosis component. Actinic keratosis was associated with squamous cell carcinoma in 22% of the cases and to basal cell carcinoma in 38%, which shows that both neoplasms may have contiguous actinic keratosis. Statistical analysis revealed no significant difference among the variables. In a cluster analysis, four groups were identified with malignant lesions in the medial canthus with the largest mean diameter and area. All margin involvements on the lower eyelid were related to malignancy, which means that all cases with margin involvement had an almost 100% risk of malignancy. Conclusions: Larger actinic keratosis lesions in the medial canthus and lesions with margin involvement on the lower eyelid have a greater probability of malignant association.

RESUMO Objetivo: Avaliar as possíveis variáveis relacionadas à ceratose actínica e lesões malignas cutâneas nas pálpebras. Métodos: Estudo prospectivo de pacientes com lesões palpebrais suspeitas de malignidade. Os participantes foram submetidos à biopsia por trépano (punch) de 2-mm em dois pontos opostos da lesão como método diagnóstico e os resultados foram comparados com o estudo histopatológico da peça excisada cirurgicamente. Aqueles que apresentaram ceratose actínica como resultado foram divididos em dois grupos (ceratose actínica associada com malignidade e ceratose actínica isolada) e foram comparados de acordo com as variáveis: idade, tempo de doença, maior diâmetro, área do tumor, classificação de Fitzpatrick, gênero, localização e acometimento da margem palpebral. A análise de cluster também foi realizada. Resultados: Foram analisadas 174 lesões e 50 delas tinham ceratose actínica como componente do tumor. Ceratose actínica esteve associada ao Carcinoma Espinocelular em 22% dos casos e ao Carcinoma Basocelular em 38%, mostrando que ambos podem ter ceratose actínica adjacente. A análise estatística não encontrou diferença entre as variáveis. A análise de cluster identificou quatro grupos e mostrou que lesões malignas no canto medial tinham maiores diâmetro e área. Acometimento da margem na pálpebra inferior relacionou-se em 100% com malignidade, enquanto a ausência de acometimento da margem mostrou menor chance de malignidade. Conclusões: Lesões maiores de ceratose actínica no canto medial e lesões com acometimento da margem palpebral inferior têm maiores chances de associação com malignidade.

Diagnosis of aggressive subtypes of eyelid basal cell carcinoma by 2-mm punch biopsy: prospective and comparative study.

OBJECTIVE: : to compare the accuracy of preoperative 2-mm punch biopsy at one site and at two sites in the diagnosis of aggressive subtypes of eyelid basal cell carcinoma (BCC). METHODS: : we randomly assigned patients to Group 1 (biopsy at one site) and Group 2 (biopsy at two sites). We compared the biopsy results to the gold standard (pathology of the surgical specimen). We calculated the sensitivity, specificity, positive predictive value, negative predictive value, accuracy and Kappa coefficient to determine the level of agreement in both groups. RESULTS: : we analyzed 105 lesions (Group 1: n = 44; Group 2: n = 61). The agreement was 54.5% in Group 1 and 73.8% in Group 2 (p = 0.041). There was no significant difference between the groups regarding the distribution of quantitative and qualitative variables (gender, age, disease duration, tumor larger diameter, area and commitment of margins). Biopsy at two sites was two times more likely to agree with the gold standard than the biopsy of a single site. CONCLUSIONS: : the accuracy and the performance indicators were better for 2-mm punch biopsy in two sites than in one site for the diagnosis of aggressive subtypes of eyelid BCC. OBJETIVO: comparar a acurácia da biópsia pré-operatória por trépano de 2mm em um sítio e em dois sítios no diagnóstico dos subtipos agressivos de carcinoma basocelular (CBC) palpebral. MÉTODOS: os pacientes foram distribuídos aleatoriamente em Grupo 1 (biópsia em um sítio) e Grupo 2 (biópsia em dois sítios). Os resultados das biópsias foram comparados com o padrão-ouro (exame anatomopatológico da peça cirúrgica). A sensibilidade, especificidade, valor preditivo positivo, valor preditivo negativo, precisão e coeficiente Kappa foram calculados para determinar o nível de concordância nos dois grupos. RESULTADOS: foram analisadas 105 lesões (Grupo 1: n = 44; Grupo 2: n = 61). A concordância foi de 54,5% no Grupo 1 e 73,8% no Grupo 2 (p-valor = 0,041). Não houve diferença significativa entre os grupos quanto à distribuição das variáveis quantitativas e qualitativas (sexo, idade, duração da doença, maior diâmetro do tumor, área e comprometimento de margens). A biópsia em dois sítios mostrou duas vezes mais chance de concordar com o padrão-ouro do que a biópsia de um sítio. CONCLUSÕES: a acurácia e os indicadores de desempenho foram melhores para a biópsia por trépano de 2 mm em dois sítios do que em um sítio para o diagnóstico dos subtipos agressivos de CBC palpebral.

Blood flow velocity in monocular retinoblastoma assessed by color Doppler.

OBJECTIVE: To analyze the flow of retrobulbar vessels in retinoblastoma by color Doppler imaging. METHODS: A prospective study of monocular retinoblastoma treated by enucleation between 2010 and 2014. The examination comprised fundoscopy, magnetic resonance imaging, ultrasonography and color Doppler imaging. The peak blood velocities in the central retinal artery and central retinal vein of tumor-containing eyes (tuCRAv and tuCRVv, respectively) were assessed. The velocities were compared with those for normal eyes (nlCRAv and nlCRVv) and correlated with clinical and pathological findings. Tumor dimensions in the pathological sections were compared with those in magnetic resonance imaging and ultrasonography and were correlated with tuCRAv and tuCRVv. In tumor-containing eyes, the resistivity index in the central retinal artery and the pulse index in the central retinal vein were studied in relation to all variables. RESULTS: Eighteen patients were included. Comparisons between tuCRAv and nlCRAv and between tuCRVv and nlCRVv revealed higher velocities in tumor-containing eyes (p < 0.001 for both), with a greater effect in the central retinal artery than in the central retinal vein (p = 0.024). Magnetic resonance imaging and ultrasonography measurements were as reliable as pathology assessments (p = 0.675 and p = 0.375, respectively). A positive relationship was found between tuCRAv and the tumor volume (p = 0.027). The pulse index in the central retinal vein was lower in male patients (p = 0.017) and in eyes with optic nerve invasion (p = 0.0088). CONCLUSIONS: TuCRAv and tuCRVv are higher in tumor-containing eyes than in normal eyes. Magnetic resonance imaging and ultrasonography measurements are reliable. The tumor volume is correlated with a higher tuCRAv and a reduced pulse in the central retinal vein is correlated with male sex and optic nerve invasion.

Hemophagocytic lymphohistiocytosis associated with hepatosplenic T-cell lymphoma: case report.

Hepatosplenic T-cell lymphoma (HSTCL) is a rare non-Hodgkin lymphoma, marked by liver, spleen, and bone marrow sinusoidal infiltration, with an aggressive clinical course, which represents a difficult diagnostic task for clinicians and pathologists. Another equally severe and challenging condition is the hemophagocytic lymphohistiocytosis (also called hemophagocytic syndrome [HS]), which is often associated with hematologic malignancies and infectious diseases. The authors report the case of a 56-year-old woman diagnosed with HSTCL based on bone marrow aspirate flow cytometry and skin biopsy. The patient underwent a cycle of chemotherapy but the outcome was unfavorable with multiple organ failure. The laboratory analysis was consistent with HS. The autopsy confirmed both the remaining lymphoma in the pulmonary vessels and the hemophagocytic cells in the spleen and bone marrow.

Prune-belly syndrome: an autopsy case report.

Prune-belly syndrome (PBS) is a rare congenital anomaly characterized by a spectrum of mild-to-severe presentations of urinary tract malformations, deficient abdominal wall musculature, and cryptorchidism in male newborns or genital abnormalities in the female newborns. Currently, antenatal diagnosis is feasible with ultrasound examination, and treatment is based on case report experience. More recently, intrauterine management has been undertaken with encouraging results. The authors report a case of PBS diagnosed at the seventeenth gestation week, when ultrasonographic examination revealed the presence of ascites, distended bladder, thickened bladder wall and posterior urethral valve. The fetus was submitted to an intrauterine intervention at the nineteenth gestational week. Delivery occurred at 34 weeks of gestation and the newborn examination was consistent with PBS. On the second day of life, the newborn was submitted to abdominoplasty, colostomy, and orchiopexy. However, the outcome was unfavorable with respiratory failure and death on the fifteenth day of life. The autopsy confirmed the diagnosis of PBS, but the immediate cause of death was attributed to aspiration pneumonia.

Malignant solitary fibrous tumor of the thyroid: a case-report and review of the literature.

Solitary fibrous tumor (SFT) is an uncommon spindle-cell neoplasm that most often involves the pleura, rarely occurring in extra-thoracic locations. Twenty-six cases of SFT arising in the thyroid gland have been described. We report a case of a 60-year-old woman presenting an 8-month history of enlargement of the neck associated with dysphagia. The patient underwent a right hemithyroidectomy and SFT of the thyroid was diagnosed. Immunohistochemistry showed positivity for CD34 marker, and the high number of mitoses and the presence of cellular atypia suggested that the tumor was malignant. To our knowledge, this is the second case of malignant SFT of the thyroid gland ever reported. Due to the rarity of these tumors, the indication of adjuvant therapy and prognosis are uncertain. Long-term follow-up after surgical resection seems to be advisable.

Wharton's jelly absence: a possible cause of stillbirth.

The umbilical cord is a structure that provides vascular flow between the fetus and the placenta. It contains two arteries and one vein, which are surrounded and supported by gelatinous tissue known as Wharton's jelly. There are many umbilical cord abnormalities that are related to the prognosis of fetus survival and birth weight. The authors report a case of umbilical cord constriction due to the localized absence of Wharton's jelly, which was undiagnosed antenatally and had a fatal outcome. A review of the association between the absence of Wharton's jelly and an unfavorable pregnancy outcome was undertaken.

Hirschsprung's disease: the importance of early diagnosis.

Congenital intestinal aganglionosis, also called Hirschsprung disease (HD), is defined as the absence of ganglionic cells in the myenteric (Auerbach) and submucosal (Meissner) plexus, due to a failure in the enteric nervous system development. The extent of intestinal involvement may vary according to the age of embryo development in which this failure occurs. It is not unusual for other malformations to be present, as well as chromosomal trisomies, manly trisomy 21. Enterocolitis is a frequent, life threatening, and feared complication of HD. Moreover, oligohydramnios is a well-known condition frequently associated with malformations, including those related to the gastrointestinal tract. The authors report the case of a newborn that presented a delayed meconium passage. On the third day of life, he presented enterocolitis-the outcome of which was favorable with clinical treatment. While the diagnosis of HD was awaiting confirmation, the enterocolitis relapsed and this time he died due to septic shock. The autopsy findings were compatible with a short segment of congenital intestinal aganglionosis. No other malformation was found. The authors call attention for an early diagnosis of HD whenever the meconium passage does not happen for at least 48 hours and for the risk factors of enterocolitis. This case also demonstrates HD associated with oligohydramnios.

Mucinous adenocarcinona of the appendix.

Diagnosis of malignancy in the vermiform appendix is quite rare. The most common histological malignant neoplasia found in this tiny portion of the gastrointestinal tract is represented by the mucinous adenocarcinoma. This entity predominates in males around 50 years of age, and clinical presentation usually mimics or occurs along with an acute appendicitis. Early diagnosis is outside the rule since most cases at this stage are symptomless. The authors present the case of a 59-year-old female patient who looked for medical attention complaining of abdominal pain. Physical examination and laboratory workup were poor in diagnostic findings. The computed tomography images were compatible with the diagnosis of appendicitis and/or appendiceal neoplasia. The patient underwent a laparotomy and right hemicolectomy. The histological examination disclosed a moderately differentiated mucinous adenocarcinoma of the appendix stage T4a, N0, M0. The patient outcome was uneventful and was referred to an oncological center.

Partial vaginal expulsion of a leiomyosarcoma.

Uterine sarcomas are an uncommon and heterogeneous group of tumors that account for 3-7% of the malignant neoplasms of the uterus and approximately 1% of all malignant tumors of the female genital system. The main clinical manifestations are abnormal uterine bleeding in pre- or postmenopausal women. Pelvic pain, abdominal distension, urinary urgency, and profuse and fetid leukorrhea are other frequent complaints. The authors present a case of a 48-year-old patient that was in amenorrhea for 2 years, who sought treatment for vaginal bleeding. On physical examination, the abdomen was distended, painful in the hypogastrium and upon examination of the external genitalia, it was observed the exteriorization of an amorphous "mass". The patient was submitted to uterine curettage. The results of the histological examination revealed leiomyosarcoma. Staging workup showed an enlarged uterus with endometrial lesion, and non-calcified pulmonary nodules. The patient underwent a pan-hysterectomy and chemotherapy, and is under oncologic treatment. The authors call attention for the unusual form of presentation of this entity.

Orbital retinoblastoma: case report.

We describe the case of a 9-month old boy with unilateral retinoblastoma and bulftalmo. Primary enucleation was the treatment of choice due to the lack of visual prognosis. The histology of the enucleated eye showed massive choroidal invasion by the tumor and the optic nerve free of neoplastic tissue. Therefore, no adjuvant chemotherapy or radiotherapy was indicated. Three months after the enucleation, the patient returned with massive orbital retinoblastoma with exposure of the conjunctiva. Treated with chemotherapy, the patient has been in remission for 12 months. The risk factors for orbital recurrence are discussed.