High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1

A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients (60% females, 40% males) who met the NIH criteria for the diagnosis of NF1, 98% had more than six café-au-lait patches, 94.5% had axillary freckling, 45% had inguinal freckling, and 87.5% had Lisch nodules. Cutaneous neurofibromas were observed in 96%, and 40% presented plexiform neurofibromas. A positive family history of NF1 was found in 60%, and mental retardation occurred in 35%. Some degree of scoliosis was noted in 49%, 51% had macrocephaly, 40% had short stature, 76% had learning difficulties, and 2% had optic gliomas. Unexpectedly high frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis were observed, probably reflecting the detailed clinical analysis methods adopted by the Neurofibromatosis Program. These same patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism. Four different mutations (Q1189X, 3525-3526delAA, E1356G, c.4111-1G>A) and four polymorphisms (c.3315-27G>A, V1146I, V1317A, c.4514+11C>G) were identified. These data were recently published.

Congenital deformity of the paw in a captive tiger: case report

Background: The aim of this report was to describe the clinical signs, diagnostic approach, treatment and outcome in the case of a tiger with a deformity of the paw.Case presentation: A 1.5-year-old tiger (Panthera tigris) was presented with lameness of the left thoracic limb. A deformity involving the first and second metacarpal bones, and a soft tissue separation between the second and third metacarpal bones of the left front paw were observed. The second digit constantly struck the ground during locomotion. Based on the physical and radiographic evaluations, a diagnosis of ectrodactyly was made. A soft tissue reconstruction of the cleft with excision of both the second digit and distal portion of the second metacarpal bone was performed. Marked improvement of the locomotion was observed after surgical treatment, although the tiger showed a low degree of lameness probably associated with the discrepancy in length between the thoracic limbs.Conclusion: This report shows a rare deformity in an exotic feline that it is compatible to ectrodactyly. Reconstructive surgery of the cleft resulted in significant improvement of limb function.

Rhabdomyosarcoma in a congenital pigmented nevus

A 7-month-old boy had a giant pigmented lesion involving the trunk and thighs that exhibited many hyperpigmented hairy and verrucous nevi. One of the nevi ulcerated and on histological examination consisted of pleomorphic rhabdomyosarcoma cells that stained for muscle-specific actin (HHF-35), desmin, and myoglobin. Around the tumor, in the dermis, benign pigmented nevus cells were observed. The occurrence of malignant tumors, other than malignant melanoma, in pigmented nevi is rarely described.

Spontaneous resolution in congenital nasolacrimal obstruction after 12 months

A retrospective observational study was performed in order to evaluate the possibility of spontaneous resolution of tearing in the congenital nasolacrimal obstruction (CNLO). Twenty-seven CNLO child carriers with spontaneous tearing resolution were evaluated according to sex, age of starting and end of symptoms. The data were evaluated by the Chi-Square Test and non-parametric Mann-Whitney test (p ≤ 0.05). Spontaneous resolution occurred between ages 3 and 48 months (Median = 14 months; Mean = 16.2 ± 10.5 months). The period in which the child presented tearing varied from 2 months to 47.5 months (Median = 12 months) and was similar for both sexes, with or without realization of massage. Our data support the possibility of CNLO spontaneous resolution in children beyond 12 months of age, allowing us to suggest postponed probing beyond this time period. Copyright © Informa Healthcare.

Congenital ranula: A case report

The purpose of this study was to report a case of bilateral swelling on the floor of the mouth of a 7-month-old patient. The lesion was congenital and had started to cause feeding problems. After the clinical diagnosis of ranula was made, the lesion was marsupialized. The obtained specimen was submitted for histopathological examination, which revealed an epithelial-lined cystic lesion. These results led to the final diagnosis of mucus retention cyst. After an 8-year follow-up period, the patient is in good general health with no recurrences.

Congenital epulis: A rare benign tumor in the newborn

Congenital epulis (CE) of the newborn is a rare benign soft tissue tumor that presents at birth. It occurs usually as a single mass with various sizes, although some multiple lesions have also been reported. The lesion is more common in female neonates and normally affects the maxillary alveolar ridge. Rare recurrence and no malignant alteration have also been reported. This condition may interfere with respiration, feeding or adequate closure of the mouth. A decisive diagnosis is made by histopathologic analysis as other newborn lesions can be incorrectly diagnosed as CE. This article presents a case report of a female infant who presented a fibrotic mass in the primary lateral incisor and canine region of the maxillary alveolar ridge. The lesion was not causing feeding or respiratory problems. After a watchful waiting procedure and no spontaneous regression, the lesion was excised under local anesthesia and confirmed by histopathologic analysis as CE.

Congenital diaphragmatic Bochdaleck hernia: Case report

Congenital diaphragmatic Bochdaleck hernia is an anatomical defect of the diaphragm, which allows protrusion of abdominal viscera into the chest, causing serious pulmonary and cardiac complications in the neonate. In this study we aimed to present a case of congenital Bochdaleck hernia. We investigated a 40 weeks old child, with a pregnancy carried out in a public hospital in Passo Fundo, Rio Grande do Sul, Brazil. We suggest that if diagnosis occurs in the prenatal period, the prognosis of this disease improves. As a consequence, it allows the parity of the fetus to occur in a higher complexity center, optimizing the chances of survival. © 2012 Lava et al.; licensee BioMed Central Ltd.

Macroscopic and Microscopic findings in a set of congenital anomalies in two calves produced through in Vitro production

In vitro production and somatic cell nuclear transfer are biotechnologies widely used for breeding cattle, although may result in congenital anomalies. This paper aims to report a set of congenital anomalies in two Nelore calves, a male and a female, produced through in vitro fertilization. The major anomalies revealed at necropsy were hypospadias, bifid scrotum, atresia ani and rectum ending in blind pouch in the male calf. In the female calf accessory spleen, atresia ani, underdevelopment of extern genitalia and urethral orifice, and rectum ending in blind pouch forming a uterus-rectum fistula were observed.

Management of congenital nasolacrimal duct obstruction - Latin American study

PURPOSE

Estudo anatomorfológico, radiográfico e tomográfico de Schistosomus reflexus em ovino da raça Dorper: relato de caso

Schistosomus reflexus (SR) is a rare and fatal congenital anomaly, primarily observed in ruminants, presenting fetus with dorsiflexion of the vertebral column, exposure of thoracic and visceral organs, and scoliosis. A caesarian was performed on a Dorper sheep on a farm in Botucatu-SP and according to the general characteristics and findings observed in the necropsy of the fetus it was an SR case. The radiography indicated a marked ventro-dorsal deviation of the thoracolumbar column segment and deformity of the ribs. On the computed tomography the integrity of the bones and organs were detected, except for the absence of a lumbar vertebra. No data were available in the literature for SR diagnosis in sheep by image, so radiographic and tomographic exams of the fetus were done.

Azadirachta indica treatment on the congenital malformations of fetuses from rats

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Sonographic and radiographic findings in congenital renal dysplasia in a female Lhasa apso

An 8-month-old Lhasa Apso female dog was referred to the Veterinary Hospital, FMVZ, Unesp, Botucatu Campus, with suspected congenital renal disorder. Ultrasound images revealed higher renal echogenicity, loss of corticomedullary demarcation and diverticular mineralization on the right kidney. The mucosal lining of the stomach was hyperechoic and radiographic examination demonstrated mineralization of wall and folds, which is consistent with uremic gastropathy.

Congenital bone malformation in a rainbow boa Epicrates cenchria crassus - case report

Bone malformation in snakes stems from inbreeding or temperature variations during gestation or incubation. Differential diagnosis are osteoarthropathy due to nutritional, metabolic and infectious diseases. For an accurate diagnosis of these changes, a radiographic exam is essential because it provides a general view of the skeleton and detects morphological abnormalities. This study aimed to report the clinical care of a rainbow boa (Epicrates cenchria crassus) with congenital kyphosis and changes in scales, from a snake pit with controlled temperature and humidity since its gestation. Multiple dorsal deviations of the column without the presence of osteoarthrosis were seen upon radiographic examination. Studies aiming to understand the cases of congenital malformation in snakes should be performed to prevent the birth of animals with this type of change.

Early fetoscopic tracheal occlusion for extremely severe pulmonary hypoplasia in isolated congenital diaphragmatic hernia: Preliminary results

Objective: To evaluate the effect of early fetoscopictracheal occlusion (FETO) (22–24 weeks’ gestation) onpulmonary response and neonatal survival in cases ofextremely severe isolated congenital diaphragmatic hernia(CDH). Methods: This was a multicenter study involving fetuseswith extremely severe CDH (lung-to-head ratio < 0.70,liver herniation into the thoracic cavity and no otherdetectable anomalies). Between August 2010 and December 2011, eight fetuses underwent early FETO. Datawere compared with nine fetuses that underwent standard FETO and 10 without fetoscopic procedure fromJanuary 2006 to July 2010. FETO was performed undermaternal epidural anesthesia, supplemented with fetalintramuscular anesthesia. Fetal lung size and vascularitywere evaluated by ultrasound before and every 2 weeksafter FETO. Postnatal therapy was equivalent for bothtreated fetuses and controls. Primary outcome was infantsurvival to 180 days and secondary outcome was fetalpulmonary response. Results: Maternal and fetal demographic characteristicsand obstetric complications were similar in the threegroups (P > 0.05). Infant survival rate was significantlyhigher in the early FETO group (62.5%) comparedwith the standard group (11.1%) and with controls(0%) (P < 0.01). Early FETO resulted in a significantimprovement in fetal lung size and pulmonary vascularitywhen compared with standard FETO (P < 0.01). Conclusions: Early FETO may improve infant survival byfurther increases of lung size and pulmonary vascularityin cases with extremely severe pulmonary hypoplasia inisolated CDH. This study supports formal testing of thehypothesis with a randomized controlled trial.