We present a case of a young man with Lemierre's syndrome characterised by suppurative thrombophlebitis of the internal jugular vein and multiple septic embolic lesions with cavitations in both lungs resulting from an infected branchial cyst which was previously undiagnosed. Lemierre's syndrome is a rare presentation, especially with pulmonary cavitations, ...

Although phlegmasia cerulea dolens, May-Thurner syndrome, and nutcracker syndrome are rare entities, knowledge of these syndromes associated with the deep veins is essential. This study presents current management of these disorders, including diagnostic and interventional strategies. Endovascular techniques have evolved and now play a significant role in the treatment of ...

Although the presence of hepatic portal venous gas (HPVG) on computed tomography (CT) is typically an ominous finding, HPVG may sometimes be less catastrophic. The clinical significance of HPVG is variable, and it depends primarily on the underlying pathology. We report a case of a patient with acquired immunodeficiency syndrome ...

INTRODUCTION: Wallenberg's syndrome and ipsilateral paresis due to combined infarction of the lateral medullary and cervical spinal infarction is known as Opalski syndrome. This rarely described syndrome was reported, to our knowledge, with DWI MRI, only once. CASE REPORT: We report the case of a 43-year-old man with autosomal dominant ...

The inherited bone marrow failure syndromes (IBMFS) include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome (SDS). Previous studies reported decreased neutrophil chemotaxis in patients with SDS; there are no reports of neutrophil function in other IBMFS. In this study we examined neutrophil respiratory burst function in IBMFS patients. ...

Scimitar Syndrome is a relatively rare variety of partial anomalous pulmonary venous connection in which the right pulmonary veins form an anomalous confluence which drains into the infra-diaphragmatic inferior vena cava. The X-ray chest in these patients shows the typical Scimitar Sign. We are presenting a patient who was diagnosed ...

Budd-Chiari syndrome (BCS) is the constellation of clinical signs and symptoms resulting from occlusion of two or more hepatic veins, often due to an underlying thrombophilic disorder. Acute myeloid leukemia has been rarely reported to be associated with hepatic vein thrombosis due to hyperleukocytosis, hyperfibrinolysis and disseminated intravascular coagulation. We ...

Congenital lung abnormalities are being detected more frequently at routine high-resolution prenatal ultrasonography. The most commonly encountered anomalies include lung agenesis-hypoplasia complex (pulmonary underdevelopment), congenital pulmonary airway malformations, congenital lobar overinflation, bronchial atresia, bronchogenic cysts, congenital high airway obstruction syndrome, scimitar syndrome, and bronchopulmonary sequestration. Recognizing the antenatal and postnatal ...

Yellow nail syndrome (YNS) is an uncommon disorder characterized by a triad of nail dystrophy, lymphedema, and pleural effusion. It is rare in children and congenital occurrence of YNS has been very rarely described. We report a 2-year-old Arab boy having congenital yellow nail syndrome with mild facial dysmorphism and ...

Brown syndrome is characterized by restricted elevation in adduction. Congenital Brown syndrome usually is diagnosed during early childhood. It is believed to be caused by an abnormality of the superior oblique tendon as it passes through the trochlea. The natural history of Brown syndrome is poorly characterized. Many patients with ...

Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. Gathering information about 35 individuals who have CRS and who are congenitally deafblind. None of the hypotheses could be confirmed ...

Background: Weaver syndrome is a congenital paediatric syndrome characterized by mental, respiratory and musculoskeletal manifestations. The coexisting deformities of the skull, the face, fingers and toes are typical. We report a case of a girl with Weaver syndrome associated with rare bilateral congenital dislocation of the hips associated with congenital ...

Congenital dislocation of the patella may present as an isolated anomaly or may be associated with other lower limb deformities as part of a more complex malformative or dystrophic syndrome. One type is the congenitally dislocated patella fixed irreducibly from birth in a lateral position, and second is the obligatory ...

We report on a case of a 57 years-old white male, patient, who presented superior vena cava syndrome (SVC) for 3 months, derived from an invasive thymoma in the medium and anterior mediastinum, compromising intrinsic and extrinsic to the SVC. After evaluation by computed tomography and magnetic angioresonance of the ...

INTRODUCTION: Congenital lacrimal fistulae are a developmental disorder and can be associated with other hereditary developmental diseases. CASE REPORT: A patient with Down syndrome presented with events of recurrent dacryocystitis and lacrimal fistulation on 1 eye. A DCR surgery with excision of a fistula had been performed 2 years before. ...

Congenital idiopathic clubfoot is the most common musculoskeletal birth defect that develops during the fetal period, but with no known etiology. MYH 2, 3, 7, and 8 are expressed embryonically or perinatally, the period during which congenital idiopathic clubfoot develops; are all components of Type II muscle, which is consistently ...

Vertical transmission of Plasmodium falciparum is under-recognized and usually associated with asymptomatic low-level parasitemia at birth. We report symptomatic congenital malaria presenting as a neonatal sepsis syndrome. The presence at birth of a high asexual parasitemia, gametocytemia, and splenomegaly indicated in utero rather than intrapartum transmission. The neonate was successfully ...

Congenital neutropenia syndromes comprise a heterogeneous group of disorders leading to increased susceptibility to bacterial infections. Recent work has elucidated the molecular basis of several congenital neutropenia syndromes such as mutations in ELA2, HAX1, GF11, and WAS. In addition, a number of complex clinical syndromes associating congenital neutropenia have been ...

We present a preterm neonate who developed congenital rubella syndrome in a mother who had rubella at 5 months of gestation. An amniocentesis was done in the mother at that time but amniotic fluid rubella PCR was negative. Thus, inspite of prenatal screening, one cannot definitely conclude absence of perinatal ...

Primary malignant lymphoma involving the ovaries is extremely rare. We present a unique case of a primary Non-Hodgkin's lymphoma (NHL) of both ovaries, preceded by an internal jugular vein trombosis (IJVT) as paraneoplastic syndrome. Currently, 36 months after surgical treatment of this FIGO Stage Ib, Ann Arbor Stage 2E NHL, ...

Anophthalmia is the congenital absence of ocular tissue from the orbit. Many syndromes and malformations (e.g., anophthalmia-esophageal-genital syndrome, Matthew-Wood syndrome, CHARGE syndrome, oculo-facial-cardio-dental-syndome, heterotaxy, and Fraser syndrome) have been associated with anophthalmia. However, its relation with congenital heart disease has not been fully elucidated. In this article, we discuss two ...

Cushing's disease in a neonate is rare and has been reported secondary to pituitary macroadenoma. A case of Cushing's syndrome due to congenital immature teratoma in the region of the pituitary has never been reported. We discuss a case of a neonate who presented with Cushing's syndrome secondary to a ...

Congenital stridor is rare. The most common presentation for congenital stridor is chronic loud breathing since birth. It is noticed in patients by the first 4 to 6 weeks of life. There are many causes of congenital stridor. Laryngomalacia is the most common cause of congenital stridor. Congenital vocal cord ...

We report a case of a child who presented cerebral and ocular congenital toxoplasmosis associated with West syndrome. He was seen and followed-up in the in patients pediatric and ophthalmologic units at the Gyneco-Obstetric and Pediatric Hospital of Yaoundé in Cameroon between July 2008 and February 2010.

Pseudo-Kaposi sarcoma is a disease entity that encompasses acroangiodermatitis as well as Steward-Bluefarb syndrome. It has varied etiologies and clinical presentations. Most important distinction is from Kaposi sarcoma and this is mainly histopathological. Here we report a case of acroangiodermatitis in a patient with congenital myopathy and have also discussed ...

We have examined 11 patients with aplasia of the thumb and we have treated by pollicization of the index finger. We have conducted a follow up of 5 years. The total absence of the thumb may be an isolated anomaly, but it is often associated with some other congenital malformation. ...

Congenital myasthenic syndrome is difficult to diagnose, especially in the neonate when classic myasthenic signs may not be present. Congenital myasthenic syndrome with episodic apnea is a rare cause of recurrent apnea in infancy. We present an infant with nine severe episodes of apnea in her first 6 months who ...

SUMMARY: Congenital differences of the upper limb occur in approximately 0.16 to 0.18 percent of live births. These patients provide a unique challenge for the reconstructive hand surgeon. The correct and timely diagnosis of hand and upper limb congenital differences will lead to appropriate care and rehabilitation. The International Federation ...

Möbius syndrome is a rare congenital disorder characterized by congenital facial weakness with impairment of ocular abduction. It is considered as a rhombencephalic disorder, and is often accompanied with hypoplasia of the pons and cerebellum. Here we report a male infant who had congenital facial asymmetry with absence of right-sided ...

Congenital patellar syndrome is bilateral isolated absence of patella. Congenital patellar aplasia or hypoplasia associated with genetic disorders belongs to a clinically diverse and genetically heterogeneous group of lower limb malformations. Absence of patella as an isolated anomaly is extremely rare and we discuss such a case in a 9-year-old ...

A 25 year old male had presented with history of abdominal distension of 20 days duration and on examination he had prominent abdominal vein and a venous hum with Ascites. He had no history of altered sensorium, melena. The clinical scenario was suggestive of Cruveilhier Baumgarten syndrome.

BACKGROUND: Congenital heart block is a rare complication of pregnancy associated with Sj??gren Syndrome that may result in the death of the foetus or infant, or the need for pacing in the newborn or at a later stage. CASE REPORT: The case is presented of a 64-year-old patient with primary ...

In 2003, the Pan American Health Organization (PAHO) adopted a resolution calling for rubella and congenital rubella syndrome (CRS) elimination in the Americas by the year 2010. Elimination was defined as the interruption of endemic rubella virus transmission in all countries of North America, Central America, South America, and the ...

Bipartite scaphoid has been debated, and is of a traumatic origin for some authors and congenital for others. The aim of study is to distinguish clinical, radiographic and MR criteria for the diagnosis of congenital bipartite scaphoid. I describe a case of a patient with bilateral bipartite scaphoid admitted at ...

A congenital aberrant vessel in the pleural cavity has rarely been described in the literature. It has been known to be a source of bleeding in spontaneous hemopneumothorax. As a result of the lack of pleural adhesions around the vessel, a congenital aberrant vessel is prone to deceleration injury. This ...

Congenital fusion of the jaws is rare. It may be unilateral or bilateral and may involve only the soft tissues or both the hard and soft tissues. This anomaly may be seen separately or in association with other syndromes. Congenital alveolar fusion restricts mouth opening, causing problems with feeding, swallowing, ...

Cavanagh syndrome is a rare, isolated congenital thenar hypoplasia with characteristic clinical, radiological and electrophysiological features. It has never been reported to occur in association with absent radial artery. We report the case of a boy with left sided congenital thenar hypoplasia fulfilling the characteristic clinical, radiological and electrophysiological features ...

Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations. These ...

Congenital neutropenia syndromes comprise a heterogeneous group of inherited disorders. Hereditary conditions associated with low neutrophil counts are persistent and need to be differentiated from neutropenia secondary to autoimmune processes or other pathologic conditions, such as myelodysplasia or leukemia. Clinically, congenital neutropenia is characterized by recurrent bacterial infections. Recently, several ...

We describe a patient with facioscapulohumeral muscular dystrophy (FSHD) associated with Möbius syndrome and congenital ophthalmoplegia. This 7-year-old girl had profound limitation of extraocular movements since birth, congenital facial diplegia, neonatal hypotonia, and progressive limb-girdle weakness. FSHD genetic testing revealed a pathogenic haplotype with a D4Z4 repeat of 30 kb. ...

Congenital swan neck deformity of the fingers is an uncommon congenital disorder. It is sporadic and not associated with other malformations. We report a case of congenital swan neck deformity of the fingers in a 16-year-old boy, with associated ulnar deviation of the fingers, bilateral simian creases and soft tissue ...

This report presents an otherwise healthy infant who developed unexplained apnea and long-segment Hirschsprung disease. After extensive evaluation that included a paired-like homeobox 2b gene (PHOX2B) analysis, he was found to have Haddad syndrome, a congenital disorder that features central congenital hypoventilation syndrome in conjunction with Haddad syndrome. Recent work ...

A 72 year old man with a history of TIAs and stroke with unexplained moderately raised ESR presented a year later with rapid deterioration of vision in his left eye because of central retinal vein occlusion. Primary antiphospholipid syndrome is found in patients with history of arterial or venous thromboembolism, ...

The term blueberry muffin baby was initially coined by pediatricians to describe cutaneous manifestations observed in newborns infected with rubella during the American epidemic of the 1960s. These children had generalized hemorrhagic purpuric eruptions that on histopathology showed dermal erythropoiesis. Since then, congenital infections comprising the TORCH syndrome (toxoplasmosis, other, ...

Congenital radio-ulnar synostosis may be an isolated abnormality or additional abnormalities may accompany it. It may also be found as a part of well-known syndromes. We present a case with bilateral congenital radio-ulnar synostosis, speech delay, dimple on shoulders, café au lait spot and characteristic facial appearance. The proband has ...

Laryngeal, tracheal, and bronchial cartilage calcification is quite rare in children. It was reported to occur in congenital cardiovascular diseases, Keutel syndrome, chondroplasia punctata, warfarin embryopathy, and warfarin sodium therapy. It can occur idiopathically as well. Laryngotracheobronchial cartilage calcification is demonstrated in this report by chest radiography and multiplanar three-dimensional ...

Medullary sponge kidney (MSK) is a congenital anomaly characterized by dilatation of the collecting ducts of Bellini associated with defective urinary acidification and concentration. Medullary nephrocalcinosis/ nephrolithiasis is the usual presentation in adults, however neonatal and childhood cases are being reported with increasing frequency. Among the conditions associated with MSK ...

Congenital constriction band syndrome is a sporadic condition that may also be present in association with other congenital anomalies. It has an incidence varying from one in 1200 to one in 15,000 live births. There is a significant predilection for the upper extremities and distal limbs. The two main objectives ...

ABSTRACT: The natural history of congenital Brown Syndrome is poorly understood and documented. In our experience, few adult cases are encountered in clinical practice. A case of bilateral congenital Brown syndrome is described, showing spontaneous resolution of clinical signs. Evidence of almost complete resolution over the years is also shown ...

Severe congenital neutropenia is a primary immunodeficiency in which lack of neutrophils causes inadequate innate immune host response to bacterial infections. Severe congenital neutropenia occurs with sporadic, autosomal dominant, autosomal recessive and X-linked recessive inheritance, as well as in a variety of multisystem syndromes. A principal stimulus for this review ...