1/21. Bilateral epidural hematoma in a pyknodysostotic child.Pyknodysostosis is a rarely encountered disease. It is characterized by abnormal facial development, fragility of the bones with relatively mild trauma, cranial abnormalities including widely opened sutures and fontanels frontal bossing, wrinkled skin, finger and nail abnormalities. In the literature, pyknodysostosis was reported only as case reports. Here, we describe a pyknodysostotic child with a bilateral parietal epidural hematoma, caused by a relatively mild head trauma. He was operated on, and the hematoma was evacuated through two different parietal craniotomies. We reported this case, since pyknodysostosis is a rare disease, and our case is the first one who had a surgical intervention as well as being the first with an epidural hematoma in pyknodysostosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/21. Double-lumen aortic arch with anomalous left pulmonary artery origin from the main pulmonary artery--bilateral persistent fifth aortic arch--a case report.Both double-lumen aortic arch (i.e., persistent fifth arch) and anomalous origin of the left pulmonary artery from the ascending aorta (failure of the development of the sixth arch) are rare diseases. They are frequently associated with cardiovascular anomalies. However, the co-occurrence of these two diseases has not been previously reported. We report such a case in a female baby with facial anomalies similar to conotruncal anomaly face syndrome.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/21. Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.Microcephalic osteodysplastic primordial dwarfism is a rare disease characterized by unique clinical appearance and specific radiographic findings, and distinctive brain abnormalities. We describe the prenatal diagnosis of two siblings with microcephalic osteodysplastic primordial dwarfism types I/III at 23 and 26 weeks of gestation, respectively. Early detection by sequential antenatal sonographic evaluation is important for counselling families known to be at risk of this rare disease.- - - - - - - - - - ranking = 2keywords = rare disease (Clic here for more details about this article) |
4/21. Does pancreatico-biliary maljunction play a role in spontaneous perforation of the bile duct in children?Spontaneous perforation of the bile duct (SPBD) is a rare disease in children. Pancreatico-biliary maljunction (PBM) has been postulated to contribute to its etiology. We have treated three children with SPBD over 30 years, two of whom had PBM. There was one boy and two girls aged 10 months to 2 years with symptoms of abdominal distension, vomiting, abdominal pain, jaundice, and acholic stools. The diagnosis of SPBD was made by paracentesis showing biliary ascites, and primary biliary and intra-abdominal drainage was performed in all cases. The site of perforation was at the connection of the common bile duct (CBD) with the cystic duct in all cases. In two cases reflux of contrast into the pancreatic duct was noted, the common channel was long (17 and 12 mm, respectively), and the bile amylase level in the CBD was abnormally high (50,000 and 67,000 IU/l, respectively). In the third patient there was no reflux of contrast into the pancreatic duct and the bile amylase and trypsin levels in the CBD and gallbladder were not measurable. Thus, SPBD in children may not be due solely to PBM, but may involve multiple mechanisms.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/21. parietal bone agenesis and associated multiple congenital anomalies.Congenital defects of the calvaria in general and the parietal bones in particular are rare diseases. The latter are of three kinds: 1) cranioschisis, 2) craniodysostosis, and 3) foramina parietalia permagna (FPP). Here, we describe an exceptional anomaly, namely, complete absence of one parietal bone and dysplasia of the other. Agenesis has been reported twice before in the literature. In these cases, the calvarial defect was the only congenital anomaly. In contrast, the patient described in this article exhibited many other congenital deformities, namely, iris coloboma, facial dysmorphism, a large ventricular septal defect of the heart, and a horseshoe kidney. Some of these deformities are associated with neural crest development. Chromosomal analysis was normal in both blood and fibroblasts, and fluorescent in situ hybridization analysis failed to demonstrate a 22q11 deletion as seen in digeorge syndrome, a neural crest-related disease complex. Since 2000, the third group of congenital defects of the parietal bones, FPP, has been associated with mutations of the MSX-2 gene. In our case, a genetic analysis of this gene was performed, but no mutations or deletions of MSX-2 were detected.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/21. Anaesthetic and airway management in a child with Hanhart's syndrome.Hanhart's syndrome (oromandibular-limb hypogenesis syndrome) is a rare disease characterized by hypoglossia/aglossia, various distal limb defects and micrognathia. Difficult airway due to micrognathia may complicate anaesthetic management in this syndrome. We describe the anaesthetic management of a child with Hanhart's syndrome undergoing plastic reconstructive surgery.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/21. Caecal volvulus in the Marden-Walker syndrome: an uncommon association of two rare diseases in a 4-year old child. Case report.The authors report a case of caecal volvulus associated with Marden-Walker syndrome in a 4-year old girl. They point out the diagnostic difficulties of this devastating disease specially in debilitated children.- - - - - - - - - - ranking = 4keywords = rare disease (Clic here for more details about this article) |
8/21. Hereditary gingival fibromatosis and sensorineural hearing loss in a 42-year-old man with Jones syndrome.Hereditary gingival fibromatosis and sensorineural hearing loss in a 42-year-old man with Jones syndrome: Gingival fibromatosis is a rare disease, which can be seen as an isolated condition or associated with some uncommon syndromes. This case report describes the evaluation and treatment of a 42-year-old male patient with hereditary gingival fibromatosis, sensorineural hearing loss, undescended testis and maxillary odontogenic cyst (Jones Syndrome). Six years follow up of the index patient after the surgery revealed no recurrence of the gingival fibromatosis. This report also describes the anamnestic data of the patient's family that showed progressive deafness and gingival enlargement in three generations.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/21. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.AIMS/HYPOTHESIS: Neonatal diabetes is a rare disease with several identified molecular aetiologies. Despite associations with other malformations, neonatal diabetes with intestinal and biliary anomalies has not been described. The current study aims to describe a new syndrome, and to examine a possible link with one of three genes known to cause neonatal diabetes. methods: Five clinical cases are described. Immunohistochemical staining for pancreatic islet hormones was performed on three of the infants. dna from one infant was analysed for abnormalities of the PLAGL-1 (ZAC), glucokinase and PDX-1 (IPF-1) genes. RESULTS: Five infants (two sibling pairs from two families, and an isolated case) presented with neonatal diabetes, hypoplastic or annular pancreas, jejunal atresia, duodenal atresia and gall bladder aplasia or hypoaplasia. One sibling pair was born to consanguineous parents. One patient with a milder form is surviving free of insulin. Four children died in the first year of life despite aggressive medical management. Pancreatic immunohistochemistry revealed few scattered chromogranin-A-positive cell clusters but complete absence of insulin, glucagon and somatostatin. Exocrine histology was variable. In one case from the consanguineous family, molecular analysis showed no duplication or uniparental isodisomy of PLAGL-1 at 6q24, no contiguous gene deletion involving the glucokinase gene, and no mutation in the coding sequences or splice sites of PDX-1. CONCLUSIONS/INTERPRETATION: This combination of multiple congenital abnormalities has not been previously described and probably represents a new autosomal recessive syndrome involving a genetic abnormality that interferes with normal islet development and whose aetiology is as yet unknown.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/21. biotinidase deficiency: a rare cause of laryngeal stridor.A case of a child with a biotinidase deficiency who had a laryngeal stridor as a leading symptom is presented. This rare disease is distressing for diagnosis but easily treatable, if recognized. This condition, unless suspect clinically, could easily be overlooked and unnecessary tracheotomy could be done.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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