Atresia ani with diphallus and separate scrota in a calf: a case report

Atresia ani, a common genetic defect in animals, is often accompanied by urogenital defects in calves. This paper reports a case of atresia ani with diphallus and separate scrota in a calf. The calf was born with atresia ani; surgery (to open the anus) was performed 3 days after birth. No urogenital abnormalities were noticed until 4 months after birth. At that time, two separate scrota (each containing a testis) and a sac-like structure in the middle of two scrota, were visible. The gait was abnormal, with abduction of the hind limbs while walking. Additionally, the hind legs appeared wider than usual at the hip joints. Two weeks later, two peni (diphallia) was observed, each in a separate preputial sheath. The calf had a normal karyotype on cytogenetic examination. Plasma concentrations of testosterone at 5.5, 6, and 7 months of age were 3.5, 1.9, and 1.7 ng/ml, respectively. At necropsy (7 months of age), the prepuce was thick and the glans of the right penis was adhered to the prepuce. The left penis did not have a urethra or retractor penis muscles. The sac-like structure in the middle of the two scrota contained the urinary bladder and a loop of small intestine. The pubic bone had failed to fuse at the pelvic symphysis. In conclusion, this is the first reported case of atresia ani with diphallus, separate scrota, and pubic bone separation in a calf.     

Multiple recurrences of vertebral hydatidosis: a case report

We present a case of an Italian man with a particularly prolonged history of hydatid disease (more than 20 years, with six recurrences) involving both osseus (costal and vertebral) and visceral (pulmonary) sites. The main clinical problems involved in the diagnosis and management of vertebral manifestations of hydatidosis are discussed in the light of the latest clinical research.     

Spontaneous regression of congenital epulis: a case report and review of the literature

Introduction

Congenital epulis is a rare lesion found on the alveolar process of a newborn child, diagnosed soon after birth. The lesion has a site predilection for the anterior maxillary alveolar process and a 9:1 sex predilection for females. Once diagnosed the traditional management of the lesion has been surgical excision under general anesthesia.

Case presentation

The purpose of this case report is to describe spontaneous regression of congenital epulis in a three week old healthy African American female child. She presented with a 1.5 cm bilobed sessile nodular lesion in the region of the right maxillary cuspid. The clinical impression was congenital epulis. Since the lesion was not interfering with feeding and respiration, a conservative approach was taken. The child was followed-up for 18 months, during which the lesion progressively regressed.

Conclusions

Conservative management prevented unnecessary surgery and anesthesia exposure in a neonate.

     

Deep-seated congenital juvenile xanthogranuloma: report of a case with emphasis on cytologic features

BACKGROUND: Juvenile xanthogranuloma (JXG) is a rare, benign non-Langerhans cell histiocytosis that usually occurs in the head, neck or upper trunk of neonates and young children. Lesions appear most frequently as solitary cutaneous nodule, but in 12% of cases they are multiple and in 5%, subcutaneous or deep-seated. In 4% of cases they are systemic. Histopathologically, deep lesions tend to be more cellular and monotonous, with fewer Touton cells. Independent of its location, the prognosis is excellent, even after incomplete resection. The lesions usually resolve spontaneously within 3 years of diagnosis. CASE: A child was born with a large, deep-seated cervical mass that was initially evaluated by fine needle aspiration biopsy, which disclosed vague, granulomatous aggregates with monotonous, histiocytic CD68-positive cells. The surgical specimen histology revealed a JXG with skeletal muscle invasion. Complete reexcision was performed 2 months later after regrowth of the tumor. CONCLUSION: Deep-seated neonatal JXGs are infrequent and may demonstrate aggressive behavior. In this setting fine needle aspiration cytology is a useful tool for the initial differential diagnostic procedure and management.     

Severe thrombocytosis and anemia associated with celiac disease in a young female patient: a case report

Introduction

Platelet counts exceeding 1.000 × 10³/μl are usually considered secondary to another cause, particularly to chronic myeloproliferative disease (CMPD). Reactive thrombocytosis due to iron deficiency rarely exceeds platelet counts of 700 × 10³/μl.

Case presentation

Here we report the case of a young woman presenting with clinical signs of severe anemia. Laboratory findings confirmed an iron-deficiency anemia associated with severe thrombocytosis of 1703 × 10³/μl. Macroscopic gastrointestinal and genitourinary tract bleeding was excluded. The excessive elevation of platelets, slightly elevated lactate dehydrogenase and slightly elevated leukocytes along with the absence of other inflammation parameters raised the suspicion of an underlying hematological disease. However, bone marrow evaluation could not prove the suspected diagnosis of a CMPD, especially essential thrombocythemia (ET). In the further clinical course the platelet count returned to normal after raising the hemoglobin to a level close to normal range with erythrocyte transfusion, and normalization of serum iron and decline of erythropoietin. Finally, following small bowel biopsy, despite the absence of typical clinical signs, celiac disease was diagnosed. After discharge from hospital the patient was commenced on a gluten-free diet and her hemoglobin almost completely normalized in the further follow-up period.

Conclusion

This case illustrates the rare constellation of an extreme thrombocytosis most likely secondary to iron deficiency due to celiac disease. This represents, to the best of the authors' knowledge, the highest reported platelet count coincident with iron deficiency. A potential mechanism for the association of iron-deficiency anemia and thrombocytosis is discussed. Even in the presence of 'atypically' high platelets one should consider the possibility of reactive thrombocytosis. Extreme thrombocytosis could emerge in the case of iron deficiency secondary to celiac disease.

     

骨髓中检出组织胞浆菌1例

组织胞浆菌（Histoplasma capsulatum）是一种深部真菌,可引起人体深部组织胞浆菌病。最近我们从1例患者骨髓涂片瑞氏染色、PAS染色、骨髓病理活检中检出组织胞浆菌,现予报道。     

Lunatomalacia in pseudopseudohypoparathyroidism: a case report

The author presents a case of avascular necrosis of the lunate bone of the carpus in a 38-years-old female with pseudopseudohypoparathyroidism. The concurrence of these 2 conditions was not been reported so far.     

Hypoganglionosis in pregnancy: a case report

ABSTRACT: INTRODUCTION: We report a very rare case of isolated hypoganglionosis first diagnosed during early pregnancy, which should be discussed from an obstetric and a gastroenterological point of view. CASE PRESENTATION: A pregnant 18-year-old Caucasian woman presented at twelve weeks of gestation with lower abdominal pain, mild constipation and a large abdominal mass. Abdominal and pelvic magnetic resonance imaging demonstrated a megarectum and megasigmoid, and our patient was managed with medical therapy during her pregnancy, which occurred without major incidents. At the onset of labor, a fecaloma obstructing the pelvic outlet was detected, which required manual disimpaction. However, during the procedure a sudden continuous fetal bradycardia was detected. An emergency Cesarean section was performed but the fetus suffered hypoxic ischemic encephalopathy. One year after the delivery, our patient underwent a sigmoid resection. A histopathological analysis revealed a reduction of nerve cells in the myenteric and submucous plexus, suggesting hypoganglionosis. CONCLUSION: Although there are some reports of pregnancies complicated by megacolon, they are too few and too old to delineate guidelines for clinical orientation. In our article, we discuss several issues regarding the management of these rare intestinal innervation disorders during pregnancy that we believe will enhance their obstetric and gastroenterological management during pregnancy.     

Autogenous rib cartilage reconstruction of congenital ear defects: report of 110 cases with Brent's technique

The purpose of this study was to confirm the feasibility of Brent's technique, which was adopted for the treatment of the patients in this series. The author reports his experience with the successful treatment of 110 consecutive patients born with unilateral 95 (86.4 percent) and bilateral 15 (13.6 percent) microtia. The main stages of the reconstruction process are described, from the initial consultation to completion of treatment: reconstruction with sculpted rib cartilage graft, lobule transposition, tragus construction, and construction of the retroauricular sulcus. Minor modifications of Brent's technique for the last surgical stage are described. The author stresses use of autogenous rib cartilage as basic reconstruction material and emphasizes meticulous carving and assembling of frameworks, for which a balanced blend of structural firmness and aesthetic smoothness is essential. The author also describes complications and their management; cases of abandonment of treatment before completion; and difficulties encountered for long-term follow-up. Specially encouraging was the low proportion of short- and long-term complications: one case of hematoma (0.91 percent), one case of infection, two cases of partial skin loss (1.82 percent), and three cases of hypertrophic scars (2.73 percent). Older patients were more prone to abandon treatment before completion of all surgical stages (p = 0.000243) in this series, and this tendency occurred more frequently during the author's early experience in treating microtia patients. Despite the difficulty of the task, this series corroborates the versatility and feasibility of the technique in different geographical areas and population groups.     

Spina bifida cystica and severe congenital bilateral talipes equinovarus in one twin of a monoamniotic pair: a case report

Background

Spina bifida and congenital talipes equinovarus (CTEV) are common congenital malformations which may occur together and increase morbidity. Monozygous twins are particularly at risk of these malformations and discordance in one type of malformation is typical. The occurrence of both spina bifida and CTEV in one twin of a monozygotic pair is rare.

Case presentation

A 22 year-old Cameroonian primigravida at 36 weeks of a twin gestation was received in our district hospital at the expulsive phase of labour on a background of sub-optimal antenatal care. A caesarean section indicated for cephalo-pelvic disproportion was performed and life monoamniotic male twins were extracted. The first twin was normal. The second twin had spina bifida cystica and severe bilateral CTEV. Routine postnatal care was ensured and at day 2 of life, the affected twin was evacuated to a tertiary hospital for proper management. He was later on reported dead from complications of hydrocephalus.

Conclusions

Spina bifida cystica with severe bilateral CTEV in one twin of a monoamniotic pair illustrates the complexity in the interplay of causal factors of these malformations even among monozygotic twins who are assumed to share similar genetic and environmental features. The occurrence and poor outcome of the malformations was probably potentiated by poor antenatal care. With postnatal diagnoses, a better outcome was difficult to secure even with prompt referral. Early prenatal diagnoses and appropriate counseling of parents are cardinal.