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Background Infants with congenital nephrotic syndrome (CNS) develop severe nephrotic syndrome that is resistant to medical therapy, and bilateral nephrectomy is recommended toward the end of the first year of life followed by renal replacement therapy. CNS infants in New Zealand have been observed to exhibit a different course to those with the typical Finnish mutation. Methods A database of CNS children at our center was retrospectively examined. All cases diagnosed between 1975 and 2011 were reviewed. Demographic data, clinical features, genetic mutations, treatment, and outcome were extracted from clinical records. Results Thirty-five patients with CNS, 23 children of Maori descent, and 12 Caucasians. Fourteen had died of either bacterial sepsis or intracranial thrombosis. Maori children had displayed a highly variable and protracted timeline to end-stage renal disease (ESRD) with median renal survival of 30 years versus 0.7 years in Caucasian patients. Mutation analysis of NPHS1 showed a founder mutation in the Maori population. Conclusions Congenital nephrotic syndrome in New Zealand Maori children exhibit a different clinical course to Caucasian children and have a mutation that was first described in this ethnic group. Keywords NPHS1 * Congenital nephrotic syndrome * Maori * Mutational analysis * Children, Introduction Congenital nephrotic syndrome (CNS) is a rare disorder characterized by massive proteinuria, severe edema, and clinical onset within the first 3 months of life. The syndrome may be caused [...]

Abstract A familial case of multicystic dysplastic kidney (MCDK) is described. The proband is a one-year-old boy with left MCDK, and his father was also revealed to have unilateral MCDK. [...]

Code Number: pl03009 ABSTRACT Proboscis lateralis is a rare congenital anomaly for which no embryological basis has been established. Besides heminasal aplasia or hypoplasia, various other craniofacial anomalies are also [...]

Code Number: pl03008 ABSTRACT Congenital proximal radio-ulnar synostosis is a rare anomaly and is often part of syndromes such as Crouzon, Apert's and Poland's. We have successfully managed one such [...]

Byline: Diane M. Pierson (), Antonio Subtil (), Eugenio Taboada (), Merlin G. Butler () Abstract: We report a newborn female with craniofacial malformations, bilateral anophthalmia, large abnormally shaped ears, short neck, small distal phalanges and nails, left diaphragmatic hernia, hypoplastic optic nerves, severe pulmonary hypoplasia, and an accessory spleen, and describe the autopsy findings. The infant expired at 18 h of life. The features were most consistent with Fryns syndrome although other conditions were considered including Matthew Wood syndrome. Anophthalmia, to our knowledge, has not been reported previously in Fryns syndrome however, eye findings are common, particularly microphthalmia and cloudy cornea. Author Affiliation: () Department of Pathology, Truman Medical Center, Kansas City, MO, USA, US () Department of Pathology, Children's Mercy Hospitals and Clinics, Kansas City, MO, USA, US () Department of Pediatrics, Children's Mercy Hospitals and Clinics, 2401 Gillham Road, Kansas City, MO 64108-9898, USA, US () School of Medicine, University of Missouri--Kansas City, Kansas City, MO, USA, US Article History: Received Date: 06/09/2001 Accepted Date: 24/07/2002

A 32-day-old girl was admitted to a hospital because of a mass in her abdomen. She had been diagnosed prenatally. A CT scan after birth showed the mass was near her left adrenal gland. The adrenal glands are on top of the kidneys. Surgery showed that the mass was part of her lung that had protruded below the diaphragm. Microscopic examination of tissue samples showed that she had a type 2 congenital cystic adenomatoid malformation.

Byline: Calvin E. Oyer (1), Nina G. Tatevosyants (1), Selina C. Cortez (2), Abby Hornstein (2), Michael Wallach (3) Keywords: Key words: cleidocranial dysplasia, wormian bones, neonate, hydrocephalus, pseudofracture of clavicle Abstract: Cleidocranial dysplasia (CCD), an uncommon disorder involving membranous bones, is rarely lethal in early life. The calvaria is defective and wormian bones are present. Abnormalities of the clavicles vary in severity from a minor unilateral defect to bilateral absence. This report concerns pre- and postmortem anatomical and radiological findings in a 15-day-old female neonate with CCD. Her postnatal course was characterized by seizures and recognition of hydrocephalus during the first day of life. The calvaria was hypoplastic with numerous wormian bones. A pseudofracture of the right clavicle was present. Hydrocephalus was present in the brachycephalic brain which had a severely thinned cerebral cortex. Hemosiderin in the ventricular lining and marked subependymal gliosis were interpreted as evidence of old intraventricular hemorrhage that had occurred in utero. A CCD-related condition, Yunis-Varon syndrome (YVS), is noted for early lethality and for developmental and secondary abnormalities of the central nervous system. The present case only partially matches the phenotype of YVS and might represent a part of a spectrum of phenotypic variants ranging from viable CCD to lethal YVS. Author Affiliation: (1) Department of Pathology, Brown University School of Medicine, Rhode Island Hospital, Women and Infants' Hospital, 101 Dudley Street, Providence, RI 02905, USA , US (2) Department of Pathology, Brown University School of Medicine, Rhode Island Hospital, 593 Eddy Street, Providence, RI 02903, USA , US (3) Department of Radiology, Brown University School of Medicine, Rhode Island Hospital, Women and Infants' Hospital, 101 Dudley Street, Providence, RI 02905, USA , US Article note: Received April 23, 1997 accepted July 24, 1997.

Byline: Rowena Spencer (1), William H. Robichaux (2) Keywords: Key words: conjoined twins, cephalopagus-thoracopagus intermediates, conjoined hearts {TX}'Exceptions prove the rule, and the anomalies of Nature do good service by throwing much light upon her normal operations. The study of one group illustrates the other ... double monsters do not result from a violation of those laws which govern our development, but simply from an embarrassment to their free operation'[1]. Abstract: Prosopo-thoracopagus twins are united from the face down to the umbilicus, none with union in the brain but all with visceral anomalies intermediate between those of cephalopagus and thoracopagus. In a review of over 1200 cases of conjoined twins reported during the past 100 years, there were 14 that illustrate the continuum between cephalopagus and thoracopagus, including three that were united only from the cervical region to the umbilicus. Classic cephalopagus twins are joined from the top of the head to the umbilicus, sharing a single foregut as well as two relatively normal hearts, the 'posterior' one often diminished. Typical thoracopagus, however, are conjoined only from the upper thorax to the umbilicus, each twin with a normal foregut but both sharing a single complex multiventricular heart. The intermediate cases shared either a single very abnormal heart or two hearts united by double aortic arches, and all except one had a single foregut. It is these cases intermediate between cephalopagus and thoracopagus which are the subject of this report. Author Affiliation: (1) Former Associate Professor of Surgery, Louisiana State University School of Medicine and Clinical Associate Professor of Surgery, Tulane University School of Medicine, New Orleans, LA , US (2) Department of Pathology and Laboratory Medicine, Tulane University Medical Center, New Orleans, LA 70112 , US Article note: Received September 11, 1996 accepted December 16, 1996

Choanal atresia may be difficult to diagnose because symptoms mimic other conditions. Choanal atreasia occurs when the nasal passage fails to open on the pharynx. The case history of a nine-year-old boy is presented. He had a long history of nasal discharge and had been diagnosed with sinus infection. A computed tomography (CT) scan produced evidence of choanal atresia and he was referred to an otolarynologist. Passage of an endoscope revealed that his left nostril ended in a blind pouch. An endoscopic surgical technique was performed to repair the defect. The blockage may be membraneous but is usually at least partially bony. An evaluation should be done when choanal atresia is found because it is often associates with other anomalies. A CT scan gives definitive diagnosis. Optimal surgical technique is debated, but endoscopic techniques hold promise. The need for a tube to hold open the passage commonly causes minor problems. Renarrowing of the passage may occur.

Byline: Nikhil. Ranjan, Rana. Singh, Rohit. Upadhyay, Vijoy. Kumar A bilateral S-shaped kidney is a rare anomaly in which both the kidneys are in their normal position, in contrast to [...]

A 25-year-old man was diagnosed with tethered-cord syndrome with myelomeningocele, a protrusion of membrane and the spinal cord through a defect in the spinal column. Tethered-cord syndrome is a disorder characterized by incomplete closure of the spinal column before birth. The patient was admitted to the hospital with intermittent lower back pain. He had had a history of this type of pain throughout his life but it had become worse after surgery one year before admission to the hospital. A large tumor had been found during the surgery but it had not been removed. A magnetic resonance image (MRI) scan of his spine revealed an oval mass inside the spinal canal and abnormalities in the spine and the spinal column. Urodynamic studies showed some abnormalities in bladder function. During surgery to remove the spinal mass, it was revealed that the patient was suffering from tethered cord syndrome.

A nevus is a circumscribed lesion of the skin that is often pigmented. Since nevi are not the result of external causes, they are generally considered to be determined genetically. They are exceptionally common. Epidermal nevus syndrome (ENS), however, is an extremely rare neurocutaneous disorder; the syndrome has a bewildering array of symptoms which includes multiple nevi, often along the midline. Brain involvement is common in ENS. To appreciate the extent of brain involvement, researchers have tabulated data from 63 cases of ENS with neurological symptoms. They found that 17 cases had striking malformations of the brain and conclude that these malformations represent the full extent of brain involvement in ENS. Sixteen of the 17 patients suffered seizures, and at least 13 were known to be mentally retarded. The most remarkable pathologic feature of the 17 cases was hemimegalencephaly, in which one hemisphere of the brain is greatly enlarged. This enlargement also involved abnormalities of the gyral pattern of the brain (twisted-appearing surface of the cerebral hemisphere); both pachygyria, in which the gyri are excessively broad, and polymicrogyria, in which the gyri are numerous and small, were observed. All 17 patients had numerous nevi on their heads. Curiously, the nevi were only on one side of the head, and the side of the head with the nevi invariably matched the side of the brain enlargement. The patients with hemimegalencephaly and gyral malformations sometimes had secondary brain involvement, which often was visible on MRI as an infarction (damaged tissue). Since patients with ENS often have abnormalities of the blood vessels, it is presumed that these lesions are secondary to some vascular abnormality. ENS, and the neurological variant described here, seems to be sporadic, and parents of a patient may be assured that future children are likely to be healthy. The authors suggest that the condition may be due to a somatic mutation, which occurs during development, rather than to a mutation in the germ line, which is passed from parent to child. (Consumer Summary produced by Reliance Medical Information, Inc.)

A case is described of a newborn boy admitted to the hospital with a mass in the left side of the chest and respiratory distress. The boy had been born the previous day in a different hospital. During pregnancy, the mother had high blood pressure, but the history of medications she used was not complete. She denied using drugs or alcohol or smoking during pregnancy. The baby was delivered vaginally at 37 weeks gestation. When he was brought to the hospital on the day after birth, he was placed in the special-care nursery and given oxygen for respiratory distress. Chest X-rays showed an opacity of the left lung and a shift of the mediastinum, the structure of tissues separating the lungs. Other examinations included listening to breath sounds and analysis of blood gases, as well as evaluation of heart function. Over the first several days in the hospital, his respiratory distress improved, but lung function did not become normal. One possible diagnosis was congenital lobar emphysema involving retention of fluid in the affected lung. Surgery was performed and a part of the left lung was removed. In response to this procedure, the rest of the left lung expanded, and the baby had a good recovery. Examination of the lung tissue removed showed an abnormal structure of the airways in part of the lung, which was diagnosed as polyalveolar lobe of lung. This condition is sometimes described as a type of congenital lobar emphysema, but whether it is truly emphysema is controversial. Seven months later, the infant was well, with normal lung function. (Consumer Summary produced by Reliance Medical Information, Inc.)

The germinal matrix is the birthplace of neurons during embryonic development. If the neuroblasts (nerve cell precursors) born here fail to migrate normally to their proper location, all of the succeeding events of brain development are altered as well. Such an abnormal sequence of developmental events is thought to be responsible for schizencephaly, in which pathological clefts in the brain are among the abnormal findings. Schizencephalies, the term for these malformations, are always the result of abnormal development, and must be distinguished from other conditions in which developing brain tissue is destroyed. The authors review three cases of schizencephaly and contrast the neuropsychological deficits with the appearance of the brain on magnetic resonance imaging. Two of the patients were examined for seizure activity; the third was seen because of muscle weakness. Two of the three patients showed slow development as children, but all had graduated high school and lead normal lives. The magnetic resonance images revealed striking abnormalities of the lobes of the brain, including large clefts. A curious finding was that all three patients were left-handed. The patients did not have any difficulty with normal conversational language, but comprehensive assessment revealed some deficits in language skills. The results of this study are an example of how developmental brain damage which does not show up as global mental retardation or a decrease in IQ scores can nevertheless be identified on occasion by comprehensive neuropsychologic testing. (Consumer Summary produced by Reliance Medical Information, Inc.)

A rare, congenital condition called Fryns syndrome has been found in 20 infants since its elucidation in 1979. The syndrome consists of a variety of abnormalities, including abnormal facial structures, hernias of the diaphragm (the breathing muscle that separates the rib cage from the abdomen), short fingertips, and malformations of the heart, nervous system, digestive system, and genital and urinary systems. Not all patients with the syndrome had all of these difficulties, however. Five new cases of Fryn's syndrome are described. In two cases, elevated maternal blood levels of alpha-fetoprotein measured during pregnancy suggested that the child was at risk for abnormalities. Upon delivery, the infants were in poor condition, as indicated by their Apgar scores, indexes of postdelivery function of the heart, respiration, muscles, and nervous system. The defects in these children are described, confirming and extending the range of problems previously known to exist in this disease. Two of these five cases were brothers, strongly suggesting that the condition may occur in certain families. Only one of the five children survived more than six weeks past birth and only one other child is known to still be living with this condition. The other 23 infants were either stillborn or died soon after birth. The survivor in this report developed seizures and also required repeated surgical procedures to prevent swelling of the head and to enable proper feeding and breathing. Prenatal diagnosis of Fryns syndrome may be possible using ultrasound to visualize the fetus. Discovery of a broadened collarbone, particularly if it coexists with an elevated maternal alpha-fetoprotein level, may improve the rate of diagnosis, but lack of these indicators does not necessarily rule out the existence of the condition. (Consumer Summary produced by Reliance Medical Information, Inc.)

Abstract Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive renal tubular disorder characterized by renal magnesium wasting, hypercalciuria, advanced nephrocalcinosis and progressive renal failure. Mutations in the paracellin-1 [...]

Byline: Projna. Biswas, Abhishek. De, Sampreeti. Sendur, Falguni. Nag, Archana. Saha, Gobinda. Chatterjee Ichthyosis hystrix is a term used to describe an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny [...]

Byline: F. K. Assadi (1), Charles I. Scott Jr. (2), Charles P. McKay (1), Linda Nicholson (2), Michael Cafone (3), Laszlo Hopp (1), Deborah A. Fattori (1) Keywords: Key wordsaCostello syndrome; Hypercalciuria; Urolithiasis Abstract: aCostello syndrome is characterized by postnatal growth deficiency, mental retardation, curly hair, coarse characteristic face, and loose skin of hands and feet. Patients with this syndrome have a high incidence of cardiac involvement, including arrhythmia, atrial septal defect, and hypertrophic cardiomyopathy. We report a 16-year-old adolescent female with Costello syndrome who presents with hypercalciuria and urolithiasis. Author Affiliation: (1) Division of Nephrology, Department of Pediatrics, Jefferson Medical College of Thomas Jefferson University, duPont Hospital for Children, Wilmington, DE 19899, USA Tel.: +1-302-651-4426, Fax: +1-302-651-5948, US (2) Division of Medical Genetics, Department of Pediatrics, Jefferson Medical College of Thomas Jefferson University, duPont Hospital for Children, Wilmington, DE 19899, USA, US (3) Division of General Pediatrics, Department of Pediatrics, Jefferson Medical College of Thomas Jefferson University, duPont Hospital for Children, Wilmington, DE 19899, USA, US Article note: Received: 15 October 1997 / Revised: 31 March 1998 / Accepted: 31 March 1998