Pyriform sinus fistula

Pyriform sinus fistulae/sinuses are rare causes of recurrent cervical abscess, especially on the left side. They can also present as acute thyroiditis. Treatment in the form of simple incision and drainage is invariably unsuccessful, and the entity may be confused with the residual tract of a second branchial arch anomaly. We report a case of pyriform sinus fistula, and believe that this is only the second case report in India. We feel that greater awareness can lead to proper and appropriate diagnosis of this anomaly.     

Congenital prepubic sinus

Congenital prepubic sinus is a rare anomaly: only five pediatric cases have to our knowledge been reported to date. We report two further cases with the sinus extending from the overlying skin through the rectus fascia to the anterior bladder wall. In our first case the opening of the sinus was just 3 cm below the midline inferior to the navel, with concentric, thin smooth-muscle layers. This lesion may represent a mild forme fruste of a midline closure defect. In our second case, the sinus was lined by transitional epithelium in its distal portion with stratified squamous epithelium near the surface, and was also surrounded by a thin smooth-muscle layer. These two cases may represent a variant of epispadiac urethral duplication. Our observations suggest that congenital prepubic sinus and urethral duplication are related embryologically.     

Urogenital sinus with sinorectal H-fistula — a hitherto undescribed anorectal anomaly

In a urogenital sinus anomaly, the urethra and vagina are conjoint for a variable distance and the anorectum is usually intact and complete. We report a case of a urogenital sinus with a fistula between the rectum and the sinus. The anomaly was successfully repaired at 2.5 years of age through a midline muscle-splitting incision in the anterior perineum. The anterior wall of the anorectum was divided in the line of the incision in order to deal with the fistula. Repair was done in layers.     

Developmental deep venous system anomaly associated with congenital malformation of the brain

We report a rare case of developmental deep venous system anomaly. The great vein of Galen and the straight sinus were absent. Both internal cerebral veins and the basal veins of Rosenthal drained into a large frontal interhemispheric falcine vein, which eventually drained into the superior sagittal sinus. The patient also had an associated neuronal migration anomaly.     

Right-sided superior vena cava draining into the left atrium: a rare anomaly of systemic venous return

The most commonly encountered systemic thoracic venous anomaly is a persistent left superior vena cava that drains into the right atrium via the coronary sinus. A much rarer systemic venous anomaly is that of isolated anomalous drainage of a normally positioned right superior vena cava (RSVC) into the left atrium (LA). This has been reported in approximately 20 patients with the diagnosis usually being made by cardiac catheterization. We report the case of a toddler with asymptomatic hypoxemia resulting from anomalous drainage of a normal RSVC into his LA. This was diagnosed non-invasively by contrast-enhanced chest CT.     

An exceptional case of urogenital sinus associated with a scrotal pouch and duplicate urethra in a female child

We report the case of an unusual genitourinary anomaly in a 5-year-old patient. The malformation consisted of a para-anal persistent urogenital sinus in a 46XX patient associated with a scrotum-like structure in the presumed clitoral location. A duplicate urethra arising from the anterior aspect of the bladder neck drained into the scrotal pouch. Two hemivaginas drained into the urogenital sinus. The patient was totally continent through the urogenital sinus but the duplicate urethra was incontinent. No hormonal problems were encountered. The girl underwent total urogenital sinus mobilization, scrotal pouch ablation, and duplicate urethra resection.     

A case of body stalk anomaly arising in the second baby of a triplet pregnancy after in-vitro fertilization and embryo transfer

We report a case of body stalk anomaly arising in the second baby of a triplet pregnancy after in-vitro fertilization and embryo transfer (IVF-ET). Body stalk anomaly or limb-body wall complex is a rare congenital anomaly with a series of similar clinical manifestations and poor prognosis. IVF-ET is an effective treatment for various types of infertility. We summarize and discuss herein the relation with the sequence of genesis for such malformations and multiple pregnancies after IVF-ET.     

Abnormal implantation of the left coronary artery on the aorta: potentially lethal malformation in children]

The authors report on the case of a 10 year-old girl who died suddenly after exercise. The autopsy showed abnormal origin of the left coronary trunk from the right sinus of Valsalva, with proximal course of the vessel between the aorta and pulmonary trunk. We discuss on the mechanism of myocardial ischemia; the opportunity to diagnose such an anomaly when the patient is alive is rare, and cause of death is most frequently determined by necropsy.     

Urogenital sinus,rectovaginal fistula,and an anterior stenosed anus—another cloacal variant

The persistent cloaca is one of the most complex and challenging developmental malformations. It is a rare anomaly occurring only in the female newborn and is represented by the association of urogenital sinus with an anorectal malformation (ARM). Each case is probably unique. We report here one such case of cloaca with the VATER association—tracheoesophageal fistula (TOF) with a urogenital sinus, rectovaginal fistula, and an anteposed stenosed anus, along with preaxial syndactyly of the right hand. The spine, renal, and cardiac systems were normal. Interim management was directed towards repair of the TOF and a right transverse defunctioning colostomy. Despite thorough radioendoscopic preoperative investigations, the complexity of the cloacal anomaly was not delineated until surgery. This case is a rather rare combination of an intermediate form of the cloacal-ARM spectrum. Such patients present with many diagnostic and therapeutic problems. Interval surgery should be directed towards decompression of the affected organ systems, and definitive surgery must be carefully planned and, whenever possible, done in a single stage with simultaneous multisystem repair to correct all significant malformations related to the cloacal complex.     

Magnetic Resonance Imaging of Unroofed Coronary Sinus: Three Cases

Unroofed coronary sinus is a rare cardiac anomaly in which communication occurs between the coronary sinus and the left atrium due to the partial or complete absence of the roof of the coronary sinus. It is usually associated with other cardiovascular anomalies, especially persistent left superior vena cava. It is often not discovered during cardiac catheterization without clinical suspicion. We report three cases of unroofed coronary sinus which were incidentally detected by magnetic resonance imaging.     

Congenital scalp defects: Adams-Oliver syndrome. A case report and review of the literature.

Localized agenesis of the scalp is a well-recognized phenomenon, with over 300 cases reported in the literature. These defects have previously been called congenital ulcer of the newborn, Streeters spots or aplasia cutis congenita (ACC). First described 160 years ago, ACC is recognized as a heterogenous group of disorders all having focal absence of scalp. Type III ACC, Adams-Oliver syndrome, consists of a scalp defect associated with a distal limb anomaly. Typically, the lesions appear as small ulcerations which may heal spontaneously. Larger lesions associated with underlying bony defects occur, and may cause death secondary to infection or hemorrhage from the sagittal sinus. We report a case of Adams-Oliver syndrome that required surgical excision and closure because of involvement of the sagittal sinus documented by multiple imaging modalities.     

Congenital hemiscrotal agenesis: Report of a rare entity

Congenital scrotal agenesis is the rarest anomaly of scrotal development disorder and is characterized by the absence of scrotal rugae in the perineum between the penis and anus.We report here a case of hemiscrotal agenesis in a 2-year-old boy. To the best of our knowledge, our patient is the second reported case of hemiscrotal agenesis in the English literature.     

Acute flaccid paralysis in a patient with sacral dimple

Sacral dimples are the most common cutaneous anomaly detected during neonatal spinal examination. Congenital dermal sinus tract, a rare type of spinal dysraphism, occurs along the midline neuraxis from occiput down to the sacral region. It is often diagnosed in the presence of a sacral dimple together with skin signs, local infection, meningitis, abscess, or abnormal neurological examination. We report a case of acute flaccid paralysis with sensory level in a 4 mo old female infant with sacral dimple, diagnosed by magnetic resonance imaging to be a paraspinal subdural abscess. Surgical exploration revealed a congenital dermal sinus tract extending from the subdural abscess down to the sacral dimple and open to the exterior with a minute opening.     

Endovascular treatment of a congenital dural caroticocavernous fistula

Carotico-cavernous sinus fistula is a rare anomaly in infancy. We report a 3-month-old boy with progressive symptoms and threatened visual loss requiring urgent therapeutic intervention. Embolization using n-butyl 2-cyanoacrylate was performed with immediate and dramatic results.     

Coronary sinus ostial atresia with persistent left superior vena cava demonstrated on cardiac CT in an infant with a functional single ventricle

Coronary sinus ostial atresia (CSOA) with persistent left superior vena cava (PLSVC) is a rare cardiovascular anomaly. Although usually asymptomatic, it is of critical importance to recognize this anomaly before cardiac surgery, particularly in patients with a functional single ventricle because ligation or division of the PLSVC may lead to lethal myocardial edema, ischemia and necrosis. To the best of our knowledge, preoperative recognition of this anomaly on cardiac CT has not been reported. We report an infant with functional single ventricle in whom CSOA and PLSVC were successfully demonstrated on preoperative cardiac CT.     

Splenorenal fusion in a 26-month-old girl

Occasionally, heterotopic splenic tissue can occur in the renal fossa secondary to splenosis following splenic trauma or splenectomy. Rarely, it can represent a developmental anomaly secondary to fusion of splenic and renal tissues. Splenorenal fusion can present as a renal mass, mimicking primary or secondary renal neoplasm on imaging studies, or with symptoms of hypersplenism (anaemia). To our knowledge, only seven cases of splenorenal fusion have been previously reported and the present case is only the second presentation in a young child. We report a case of splenorenal fusion in a 26-month-old girl with symptoms of hypersplenism and an abdominal mass associated with a ventricular septal defect, an umbilical hernia and a previous congenital dislocation of the hip.     

Left Hemitruncus With Tetralogy of Fallot and Right Aortic Arch: Rare Survival Beyond the First Decade

Hemitruncus is an uncommon congenital anomaly that has been described in isolation or in association with other congenital cardiac malformations. This report describes a rare case of left hemitruncus with tetralogy of Fallot and a right-sided aortic arch. The patient presented to us in the early second decade. The diagnosis was suspected with echocardiography and confirmed with cardiac catheterization. The patient underwent successful surgical correction of the anomaly.     

Endodermal sinus tumour of the omentum in a child

Endodermal sinus tumour usually arises in a gonad; extragonadal endodermal sinus tumours are rare. We report a 3-year-old boy with an endodermal sinus tumour arising in the greater omentum, which may be the second reported case in the English literature. He presented with a solid mass in the upper abdomen and a markedly raised serum -fetoprotein (AFP) level. Following percutaneous needle biopsy and omentectomy, histological examination revealed classic morphological features of an endodermal sinus tumour. This rare diagnosis is possible from the imaging features in association with a raised serum level of AFP.     

Familial malrotation: report of three affected siblings

We herein report the case of three siblings presenting with intestinal malrotation. Their medical history and circumstances of diagnosis are described. Barium meal demonstrated a minor duodenal anomaly in the mother. As far as we can ascertain, this is the third report of isolated familial malrotation in more than one generation, raising questions about its developmental mechanism. We thus highlight in what circumstances familial investigations should be undertaken in case of malrotation.     

Cor triatriatum sinister: unusual cause of neonatal respiratory distress]

We report the case of a newborn presenting with neonatal respiratory distress due to acute pulmonary edema, the underlying diagnosis being cor triatriatum sinister. This rare anomaly can be lethal in the short term. However, it can be completely cured surgically provided that diagnosis is made on time.