Multiple congenital PSS in a dog: case report and literature review.

A 4 yr old spayed female mixed-breed dog presented with a 2 yr history of recurring increases in liver enzymes. Two congenital portosystemic shunts (PSSs) were identified using computed tomography (CT) angiography, which included a portoazygous and portorenal extrahepatic shunt. Double right renal veins were also identified. The shunts were successfully identified and attenuated with cellophane banding. Multiple congenital PSS is a rare phenomenon, but should be considered during exploratory laparotomy for PSS and in dogs with poor response to surgical attenuation of a single PSS. CT proved to be a crucial part of accurate diagnosis and surgical planning for this dog with multiple congenital PSS.

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.

OBJECTIVES: To describe 3 children with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS). STUDY DESIGN: Biochemical evaluations, magnetic resonance and ultrasound imaging, electroretinograms, IQ testing, and sequence analysis of the PKHD1 and MKS3 genes were performed. Functional consequences of the MKS3 mutations were evaluated by cDNA sequencing and transfection studies with constructs of meckelin, the protein product of MKS3. RESULTS: These 3 children with MKS3 mutations had features typical of ARPKD, that is, enlarged, diffusely microcystic kidneys and early-onset severe hypertension. They also exhibited early-onset chronic anemia, a feature of nephronophthisis, and speech and oculomotor apraxia, suggestive of JS. Magnetic resonance imaging of the brain, originally interpreted as normal, revealed midbrain and cerebellar abnormalities in the spectrum of the "molar tooth sign" that characterizes JS. CONCLUSIONS: These findings expand the phenotypes associated with MKS3 mutations. MKS3-related ciliopathies should be considered in patients with an ARPKD-like phenotype, especially in the presence of speech and oculomotor apraxia. In such patients, careful expert evaluation of the brain images can be beneficial because the brain malformations can be subtle.

Rubber tourniquet technique: A simple, safe, and cost-effective method of hepatic resection in neonates and infants.

BACKGROUND: Despite the improvements in patient care, understanding of surgical anatomy of liver and surgical techniques, liver resection is a high-risk procedure specifically in infants and neonates; whose blood volume is limited (80 ml/kg). This report shares the experience of hepatic resection with "Rubber tourniquet technique" in patients less than 6-months of age. METHODS: Hepatic resection in a 4-month-old pair of Conjoined twins with shared liver and a 3-day old baby with large Congenital Hepatoblastoma was performed using Penrose rubber drain as a tourniquet around the liver parenchyma to reduce blood loss. RESULTS: Blood loss was minimal (<20CC) and all the three babies survived the procedure without complications. CONCLUSION: Rubber tourniquet technique is simple, safe and cost-effective for liver resections in neonates and infants with hepatic lesions and separation of conjoined twins with shared liver and it can easily be employed in resource constraint settings.

Syndrome of intrahepatic biliary dysgenesis and cardiovascular malformations.

Peripheral pulmonary stenosis with or without intracardiac disease is described in 14 patients with intrahepatic biliary dysgenesis. Cardiovascular malformations were not present among a large group of patients with extrahepatic biliary dysgenesis. This association of intrahepatic biliary dysgenesis and vascular malformations is postulated to be a specific malformation syndrome resulting most probably from intrauterine infection. The cardiovascular disease is usually mild. The liver dysfunction varies in severity, and is accompanied by a notable hyperlipoproteinemia with secondary xanthomata which can be ameliorated by long-term treatment with cholestyramine resin and/or vegetable oil supplements.

Joubert Syndrome and related disorders.

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging, first recognized in JS. Estimates of the incidence of JSRD range between 1/80,000 and 1/100,000 live births, although these figures may represent an underestimate. The neurological features of JSRD include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. These may be associated with multiorgan involvement, mainly retinal dystrophy, nephronophthisis, hepatic fibrosis and polydactyly, with both inter- and intra-familial variability. JSRD are classified in six phenotypic subgroups: Pure JS; JS with ocular defect; JS with renal defect; JS with oculorenal defects; JS with hepatic defect; JS with orofaciodigital defects. With the exception of rare X-linked recessive cases, JSRD follow autosomal recessive inheritance and are genetically heterogeneous. Ten causative genes have been identified to date, all encoding for proteins of the primary cilium or the centrosome, making JSRD part of an expanding group of diseases called "ciliopathies". Mutational analysis of causative genes is available in few laboratories worldwide on a diagnostic or research basis. Differential diagnosis must consider in particular the other ciliopathies (such as nephronophthisis and Senior-Loken syndrome), distinct cerebellar and brainstem congenital defects and disorders with cerebro-oculo-renal manifestations. Recurrence risk is 25% in most families, although X-linked inheritance should also be considered. The identification of the molecular defect in couples at risk allows early prenatal genetic testing, whereas fetal brain neuroimaging may remain uninformative until the end of the second trimester of pregnancy. Detection of the MTS should be followed by a diagnostic protocol to assess multiorgan involvement. Optimal management requires a multidisciplinary approach, with particular attention to respiratory and feeding problems in neonates and infants. Cognitive and behavioral assessments are also recommended to provide young patients with adequate neuropsychological support and rehabilitation. After the first months of life, global prognosis varies considerably among JSRD subgroups, depending on the extent and severity of organ involvement.

The use of Surgisis for abdominal wall reconstruction in the separation of omphalopagus conjoined twins.

Abdominal wall reconstruction in omphalopagus twins poses a difficult reconstructive challenge, as separation often results in a large abdominal wall defect. A number of options are available for closure, including tissue flaps, expanders and patches made of foreign material. Surgisis is a new biodegradable small intestine scaffolding substrate that permits tissue in-growth and results in a permanent durable scar. We describe its use in abdominal wall reconstruction after separation of a set of conjoined twins. A set of omphalopagus conjoined twins shared liver and abdominal wall. After separation at 6 months of age, Twin A's abdomen could be closed primarily, but Twin B could not. A 4-ply Surgisis mesh was used in the upper abdominal closure, and a skin flap was created, to completely cover the patch. Both twins survived the operation. A small portion of the skin flap over the Surgisis broke down, healing by secondary intention. In follow up of over 18 months post procedure, there have been no wound infections and the abdominal wall is intact with no evidence of a hernia. Surgisis can be successfully used for the reconstruction of complex abdominal wall defects in the pediatric patient, including reconstruction after separation of conjoined twins.

Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.

Cranioectodermal dysplasia (CED, Sensenbrenner syndrome; OMIM #218330) is an autosomal recessive disorder reported only in 15 cases, which is characterized by dolichocephaly, rhizomelic dwarfism, dental and nail dysplasia, and progressive tubulo-interstitial nephritis (TIN) leading to end-stage renal failure. Herein, we describe a new patient with cranio-ectodermal dysplasia. Unlike previously reported cases, this 4-year-old child presented with tubulo-interstitial nephropathy associated with liver cystic disease and elevated liver enzymes. The liver biopsy demonstrated congenital hepatic fibrosis secondary to ductal plate malformation. The coexistence of a chronic tubulo-interstitial renal disease with lesions associated to malformations of the hepatic ductal plate indicates that CED as a new member of the congenital hepatorenal fibrocystic syndromes.

Teratogenicity of elevated egg incubation temperature and egg vitamin A status in Atlantic salmon, Salmo salar L.

The present study was undertaken to investigate the possibility that high egg vitamin A (VA) status in combination with elevated egg incubation temperatures may cause deformities in Atlantic salmon, Salmo salar L. Egg batches selected for their total VA concentration were exposed to low (normal, 8 degrees C) or elevated (14 degrees C) egg incubation temperatures. Temperature was the main factor causing bone deformities such as warped gill opercula, fin and jaw deformities, but not for the development of spinal deformities where all groups displayed a 'baseline' occurrence of mild deformity (decreased vertebral size in the cephalic region) and no systematic variation in the occurrence of serious spinal deformities (fused vertebrae). A possible effect of egg incubation temperature fluctuation was found for the groups reared at low temperatures. An indication of a negative effect of elevated egg VA status for the development of organ deformities such as missing septum transversum and situs inversus was found in addition to temperature effects, however, no firm conclusions could be drawn from the present data. The phenotypes for temperature-induced deformities resembled the phenotype of VA-induced deformities, but no clear conclusions on the causality of the deformities found in the present study could be drawn. Egg incubation temperatures, both absolute temperature and temperature variations, should therefore be strictly controlled.