Campomelic Syndrome Associated with Potter's Syndrome and Car diosplenic Syndrome

ABSTRACT Campomelic syndrome is a heterogeneous group of disorders characterized by short-limbed dwarfism with congenital bowing or bending of the long bones particularly in the lower limbs and is frequently associated with a variety of non-skeletal manifestations. Two distinct types are (1) long-limbed campomelic dysplasia with bent bones of normal length and width: (2) short-limbed campomelic dysplasia in which the bent bones are short and wide. We reported an autopsy case of this syndrome.
This male baby with gestational age of 32 weeks was born to a mother with placenta previa, showing abdominal distention and short-limbed appearance. Postmortem examination revealed bilaterally enlarged Potter type 1 polycystic kidneys, a pancreatic cyst, and two spleens in the abdominal cavity. Both lungs were hypoplastic and the heart exhibited multiple congenital anomalies such as double outlet right ventricle, pulmonary artery hy-poplasia, mitral atresia, absence of ductus arteriosus, and inferior vena cava draining into the left atrium. Characteristically both femur bones were curved at proximal two-thirds with slightly shortened lengths. Both humeri also showed bending of distal one-third. Other chondro-osseous abnormalities such as small epiglottis, narrow thorax, dolichoce-phaly, and bilateral equinovarus deformity were noted. These findings were compatible with campomelic dysplasia of long-limbed type accompanying unusual sets of non-skeletal manifestations of Potter's syndrome and cardiosplenic syndrome. Key words: campomelic syndrome, Potter's syndrome, cardiosplenic syndrome     

Prader-Willi Syndrome Coincident with DiGeorge Syndrome

Indian Journal of Pediatrics -     

Waugh's Syndrome

A case of Waugh's Syndrome, association of malrotation and intussusception, is being reported. It is suggested that this possibility must be kept in mind and looked for, when a case of intussusception is being treated either by surgery or by hydrostatic reduction. If not when the child develops intestinal problems like obstruction, secondary to malrotation, in the post operative period, it could be misdiagnosed as recurrent intussusception.     

Currarino综合征

Currarino综合征比较少见，作者结合遇到的病例报道如下。     

DeSanctis-Cacchione Syndrome

We report a case of DeSanctis-Cacchione Syndrome presenting with unusual features like early onset of cutaneous lesions and optic atrophy.     

Nephrotic Syndrome

The pathogenetic basis of idiopathic nephrotic syndrome, a common childhood glomerulopathy, is being explored. While initial evidence supported an imbalance of T helper responses, recent studies suggest alterations in both innate and adaptive immune responses, including evidence for impaired T regulatory function. The central role of the podocyte in causing proteinuria is confirmed by the observation of mutations in key podocyte proteins in steroid resistant nephrotic syndrome and experimental evidence of altered podocyte signaling and cytoskeletal organization. The outcome and management of idiopathic nephrotic syndrome in children is determined by the response to corticosteroids and the frequency of relapses. While patients with steroid sensitive nephrotic syndrome have a favorable long term outcome, almost half of them relapse frequently and are at risk of adverse effects of corticosteroids. Although various non-corticosteroid immunosuppressive agents are used to prolong disease remission, careful monitoring is required for the potential adverse effects. Calcineurin inhibitors have emerged as the choice of therapy in patients with steroid resistant nephrotic syndrome. However, the management of this form of the disease is particularly challenging because of the variable response to immunosuppression, therapy-related significant adverse effects and high rates of disease progression to end stage renal disease. Patients with both corticosteroid sensitive and resistant forms of the disease are at risk of complications of disease, and require close monitoring and repeated counseling.     

Van-der-Woude Syndrome

We report on two families with different expression of a Van-der-Woude-Syndrome (VWS) and with proven mutation of the IRF6- gene. The Van-der-Woude syndrome is a rare disease, typically consisting of congenital pits of the lower lip in combination with cleft lip or cleft palate or both. The Van-der-Woude syndrome is an autosomal dominant syndrome with variable expression. The penetrance is between 0,89 and 0,99. It is important to establish the correct diagnosis by careful investigation of patients with cleft lip or cleft palate and their parents. Genetic counselling is recommended in such cases.     

Post-Concussion Syndrome

ABSTRACT. A 9-year-old boy was referred for child-psychiatric examination because of failure in school, restlessness, impulsiveness and concentration difficulties. The symptomatology was ascribed to a previous severe head injury and defined as a post-concussion syndrome. During the examination it was found that he had an identical twin brother without a history of brain-damage. A comparison of the patient and his twin brother with the same examination methods at the age of 9 and 18 gave similar results. These indicate that factors other than brain damage also could explain a clinical picture with school failure, restlessness, impulsiveness and concentration difficulties in a schoolboy. The question arises whether a clinical picture of this kind are the symptoms of stress among vulnerable boys in reaction to excessive demands from their psychosocial environment.     

Maroteaux-Lamy Syndrome

Mucopolysaccharidoses are a type of lysosomal storage disorders characterized by defect in the degradation of Mucopolysaccharides due to deficiency of specific lysosomal enzymes leading to their accumulation in various tissues. MPS-VI (Maroteaux-Lamy Syndrome) is an autosomal recessive syndrome due to deficiency of enzyme Aryl- Sulfatase -B, and is characterized by characteristic facies, normal intelligence, Dysostosis multiplex, organomegaly, joint stiffness, corneal clouding and striking inclusions in peripheral blood leucocytes. We present an 8-year-old male child with MPS-VI syndrome, confirmed by enzyme assay.