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ABSTRACT: The anti-Hu syndrome is a well-known paraneoplastic syndrome and may be rarely seen in patients with neuroblastoma. However, it is relatively unknown that anti-Hu antibodies can cause gastro-intestinal signs and symptoms. We report on a child with neuroblastoma who presented with gastro-intestinal disturbances as a result of the anti-Hu syndrome and summaries two similar case reports reported in literature. Neuroblastoma patients with gastro-intestinal disturbances, ranging from constipation to a paralytic ileus, might suffer from the gastro-intestinal anti-Hu syndrome. The causative antibodies can be determined to diagnose or exclude this syndrome, and successful treatment is possible.
Pediatric Blood & Cancer 12/2008; 52(3):396-8. · 1.89 Impact Factor
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ABSTRACT: 2 newborns, boys weighing 1400 and 950 g, died 2 and 8 hours after birth respectively. Autopsy was not permitted but MRI was possible. In the first newborn, characteristic abnormalities ofa Potter's sequence were found: pulmonary hypoplasia, missing kidneys and ureters and a rudimentary bladder. Clinically, a small chest, low-positioned ears, a flattened nose, a retracted chin, contractures of both knees and a talipes equinus of both feet had already been observed. In the second newborn, an MRI scan of the skull revealed a torn cerebellar tentorium with intracranial bleeding. The cause of death in newborns is often unknown. Autopsy is the gold standard for determining the cause of death. However for a variety of reasons, many parents do not give informed consent for autopsy. In such cases, post-mortem MRI may be an alternative. Abnormalities ofthe central nervous system, muscles and internal organs can usually be clearly visualized using MRI. However, the diagnosis of cardiac abnormalities using this technique is more difficult.
Nederlands tijdschrift voor geneeskunde 06/2008; 152(22):1287-91.
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ABSTRACT: A 12.5-year-old girl with diabetes mellitus type 1 presented with stunted growth and an increase in body weight. Also, her blood-sugar levels were difficult to manage. An adrenocorticotropin-(ACTH)-independent form of Cushing's syndrome was diagnosed. During the dexamethasone-suppression test, a paradoxical increase in urinary-free cortisol excretion was observed, which is a clear indication of primary pigmented nodular adrenocortical disease (PPNAD). The treatment for patients with PPNAD is bilateral adrenalectomy and hormone substitution. PPNAD may be part of the Carney complex, an autosomal dominant multiple neoplasia syndrome. Screening of family members is mandatory. Further investigation for mutations in the gene encoding the regulatory subunit 1A of the protein kinase A (PRKAR1A) may be helpful.
Nederlands tijdschrift voor geneeskunde 11/2006; 150(43):2390-3.
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ABSTRACT: Three children, two boys aged 5 years and one 2-year-old girl, who were referred because of abdominal pain of variable duration, were found to have cystic malformations that arose from the pancreas. In the first boy, a traumatic pseudocyst was found that eventually turned out to have been caused by child abuse. The second boy had pseudocysts complicating chronic pancreatitis of presumably hereditary origin. In the girl, a congenital pancreatic cyst was found. Pancreatic disease, although rare, should be considered in the differential diagnosis of abdominal pain in children.
Nederlands tijdschrift voor geneeskunde 04/2006; 150(9):500-4.
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Nederlands tijdschrift voor geneeskunde 08/2005; 149(28):1597.
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ABSTRACT: The presentation of sonographic and perinatal findings of tetrasomy 9p.
Chorionic villus sampling and amniocentesis were performed at 19 weeks of gestation because of the sonographic findings of Dandy-Walker malformation with bilateral ventriculomegaly. Cytogenetic analysis showed 47,XX,+i psu dic(9)(pter->q12::q12>-pter). The pregnancy was terminated at 20 weeks of gestation at the request of the parents. At post-mortem examination, the presumed hypoplasia of the vermis could not be confirmed for technical reasons. No other pathological findings were seen.
From our experience and from the literature, we conclude that Dandy-Walker malformation is an important finding in tetrasomy 9p. Chromosomal studies should be carried out in fetuses with sonographically detected Dandy-Walker malformation, even in the absence of other abnormalities.
Prenatal Diagnosis 11/2004; 24(10):796-8. · 2.11 Impact Factor
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ABSTRACT: A grandmother, her three children, and three grandchildren had skeletal abnormalities consisting of a short stature, bilateral symmetrical very short, broad and bowed radii, very short and broad ulna, mildly short lower legs, short proximal end of fibula, abnormal ankles, abnormal calcaneus and talus and pes equinus. They had normal craniofacial features, normal intelligence and normal chromosomes. We concluded that this skeletal dysplasia resembles the autosomal dominant mesomelic dysplasia, Kantaputra type. Prenatal diagnosis by ultrasound examination early in the pregnancy was possible. We found no evidence for a SHOX gene deletion or point mutation. As far as we know this is the third reported family with this skeletal dysplasia.
American Journal of Medical Genetics Part A 09/2004; 128A(4):404-9. · 2.39 Impact Factor
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ABSTRACT: A grandmother, her three children, and three grandchildren had skeletal abnormalities consisting of a short stature, bilateral symmetrical very short, broad and bowed radii, very short and broad ulna, mildly short lower legs, short proximal end of fibula, abnormal ankles, abnormal calcaneus and talus and pes equinus. They had normal craniofacial features, normal intelligence and normal chromosomes. We concluded that this skeletal dysplasia resembles the autosomal dominant mesomelic dysplasia, Kantaputra type. Prenatal diagnosis by ultrasound examination early in the pregnancy was possible. We found no evidence for a SHOX gene deletion or point mutation. As far as we know this is the third reported family with this skeletal dysplasia. © 2004 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A 07/2004; 128A(4):404 - 409. · 2.39 Impact Factor
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F S Van Dijk,
I.M. Nesbitt,
E.H. Zwikstra,
P.G.J. Nikkels,
S.R. Piersma,
S.A. Fratantoni,
C.R. Jimenez,
M. Huizer,
A.C. Morsman,
J M Cobben, [......],
M.W. Elting,
J I M L Verbeke, L C D Wijnaendts,
N.J. Shaw,
W. Högler,
C. McKeown,
E.A. Sistermans,
A. Dalton,
H Meijers-Heijboer,
G Pals
