1/12. Congenital nasal pyriform aperture stenosis associated with central diabetes insipidus.We describe a child who has central diabetes insipidus associated with congenital nasal pyriform aperture stenosis without any apparent anterior pituitary dysfunction. This association further strengthens the concept that congenital nasal pyriform aperture stenosis may be a microform of holoprosencephaly.- - - - - - - - - - ranking = 1keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
2/12. holoprosencephaly: the Maastricht experience.holoprosencephaly (HPE) is a developmental field defect with impaired cleavage of the embryonic forebrain as the cardinal feature. The prevalence is about 1 in 11.000-20.000 in live births and 1 in 250 during embryogenesis. In most cases, craniofacial abnormalities are associated and reflect in 80% of cases the degree of severity. The severity is of marked variability and ranges from cyclopia to minimal craniofacial dysmorphism, such as mild microcephaly with a single central incisor. The etiology of HPE is very heterogeneous and comprises environmental factors (e.g. maternal diabetes) and genetic causes. Approximately 50% of HPE cases are associated with a cytogenetic abnormality (the most common of which is trisomy 13) or a monogenic syndrome. Based on recurrent cytogenetic abnormalities, there are at least 12 genetic loci that likely contain genes implicated in the pathogenesis of HPE. Currently, four human HPE genes are known: SHH at 7q36, ZIC2 at 13q32, SIX3 at 2p21 and TGIF at 18p11.3. Over the past 13 years, 16 patients with HPE have been observed at the Department of Clinical genetics at Maastricht. Some of them are briefly presented in order to emphasize the spectral nature of HPE and the etiological heterogeneity. One patient appeared to have a partial 18p deletion due to a maternal cryptic translocation t(1:18) and, in addition, a SHH mutation. The mildest affected patient presented with microcephaly and a single maxillary incisor; she had a submicroscopic 7q deletion. Finally, we propose a protocol of etiological work-up of HPE cases.- - - - - - - - - - ranking = 0.0021068626873566keywords = diabetes (Clic here for more details about this article) |
3/12. Hypodipsia-hypernatremia syndrome associated with holoprosencephaly in a child: a case report.We report a child with diabetes insipidus and hypodipsia associated with holoprosencephaly. A two-year-old girl with the history of several admittances to hospital during and after the newborn period with hypernatremic dehydration, acute renal failure and convulsions is presented. The patient had hypodipsia, hypernatremia, microcephaly, failure to thrive, and unilateral cleft lip and palate. magnetic resonance imaging revealed lobar type holoprosencephaly. Increased plasma osmolality and decreased urinary osmolality were detected. Her urine ADH level was 10 ng/day. plasma osmolality levels returned to normal after hydration and administration of a vasopressin analogue. These findings suggest that in children with hypernatremia-hypodipsia syndrome, the possibility of cerebral malformations should always be kept in mind.- - - - - - - - - - ranking = 0.2keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
4/12. holoprosencephaly presenting as membranous aplasia cutis and diabetes insipidus: report of one case.Membranous aplasia cutis is characterized by the presence of a cystic-like nodule located at the midline of the scalp, which is surrounded by a ring of long, dark hair, called a 'hair collar' sign; it always contributes to underlying central nervous malformation. Herein, we report a 2-month-old male infant who was admitted to our ward due to diabetes insipidus complicated with hypernatremia. physical examination revealed the unique 'hair collar' sign, which is a rare presentation of congenital aplasia cutis. Imaging study revealed holoprosencephaly. Thus, the aim of this report is to remind pediatrician that in a neonate who has "membranous aplasia cutis" with hair collar sign, imaging studies, including brain sonography, computed tomography or magnetic resonance imaging of the brain, should be performed because of the great possibility of underlying central nervous system malformation.- - - - - - - - - - ranking = 1keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
5/12. Congenital nasal pyriform aperture stenosis with semilobar holoprosencephaly.We describe a child who has congenital nasal pyriform aperture stenosis with single maxillary central incisor, holoprosencephaly and central diabetes insipidus without any apparent anterior pituitary dysfunction. Conservative management of the congenital nasal pyriform aperture stenosis is adopted and management of diabetes insipidus is described. A literature review is undertaken.- - - - - - - - - - ranking = 0.4keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
6/12. prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?trisomy of the short arm of chromosome 4 is a well-known syndrome, and several observations have been made in the last 30 years. Herein, we report a new observation of trisomy 4p in a fetus with a semi-lobar holoprosencephaly (HPE), dysmorphic features and multiple malformations. The diagnosis of HPE was made, at 33 weeks' gestation, on the fetus of a healthy G1P0 woman. amniocentesis was performed for chromosome analysis and additional material was found on a chromosome 22. The couple elected to terminate the pregnancy and fetal examination was realized. Conventional and molecular cytogenetic studies were performed on the fetus and the parents, which showed that the additional material found on one chromosome 22 corresponded to the short arm of chromosome 4 and therefore led us to establish a diagnosis of trisomy 4p inherited from the malsegregation of a paternal translocation t(4;22)(q12;q11.1). The etiology of HPE is very heterogeneous; it includes non-genetic factors such as maternal diabetes and genetic causes. HPE cases have been described in association with many chromosomal anomalies, trisomy 13 being the most frequent. However, to our knowledge, HPE has never been previously reported in association with a trisomy involving solely the short arm of chromosome 4.- - - - - - - - - - ranking = 0.0021068626873566keywords = diabetes (Clic here for more details about this article) |
7/12. Vasopressin and gonadotropin deficiency in a boy with the ectrodactyly-ectodermal dysplasia-clefting syndrome.A boy presented with ectrodactyly (lobster claw deformity), bilateral cleft lip and palate, semilobar holoprosencephaly and microcephaly, associated with congenital hypogonadotropic hypogonadism and central diabetes insipidus. Other aspects of pituitary function were normal. We suggest that the ectrodactyly-ectodermal dysplasia-clefting syndrome can be associated with a variety of hypothalamo-pituitary dysfunctions, in addition to the already described isolated growth hormone deficiency.- - - - - - - - - - ranking = 0.2keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
8/12. Median cleft lip without holoprosencephaly. Case report.A patient with median cleft lip is reported, but the patient showed no evidence of holoprosencephaly, which was ruled out by MRI. When the neonate's head circumference is within two standard deviations of the mean and normotelorism occurs with median cleft lip, it can be assumed that the brain is not holoprosencephalic. The importance of this cannot be overemphasized because median cleft lip is commonly associated with holoprosencephaly and severe microcephaly. The mother developed overt diabetes mellitus after the patient was born. However, infants of diabetic mothers are known to be at increased risk of giving birth to infants with holoprosencephaly. Since a prediabetic woman may sometimes give birth to large and/or malformed infants before developing overt diabetes mellitus, it is intriguing to speculate that the prediabetic state might have resulted in a forme fruste of holoprosencephaly, affecting, in this case, only the face and not the brain.- - - - - - - - - - ranking = 0.0042137253747133keywords = diabetes (Clic here for more details about this article) |
9/12. Alobar holoprosencephaly with diabetes insipidus and neuronal migration disorder.A 2-year-old girl with alobar holoprosencephaly associated with facial abnormalities, central diabetes insipidus, and a neuronal migration disorder is reported. The diagnosis of diabetes insipidus was based on low urine osmolality and low plasma ADH concentration during a water deprivation test, and clinical and biochemical improvement after desmopressin acetate administration. Because the posterior portion of the pituitary was located in the sella turcica and the hypothalamo-pituitary stalk was intact, the diabetes insipidus was presumed to have been caused by hypothalamic osmoreceptor dysfunction. MRI findings were compatible with alobar holoprosencephaly. In addition, heterotopic gray matter was recognized as a continuous band over a single ventricle. Defective cleavage of the prosencephalon associated with a neuronal migration disorder is characteristic of alobar holoprosencephaly.- - - - - - - - - - ranking = 1.4keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
10/12. Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.Cebocephaly and sirenomelia are uncommon birth defects. Their association is extremely rare; however, the presence of spina bifida with both conditions is not unexpected. We report on a female still-birth with cebocephaly, alobar holoprosencephaly, cleft palate, lumbar spina bifida, sirenomelia, a single umbilical artery, and a 46,XX karyotype, but without maternal diabetes mellitus. Our case adds to the examples of overlapping cephalic and caudal defects, possibly related to vulnerability of the midline developmental field or axial mesodermal dysplasia spectrum.- - - - - - - - - - ranking = 0.0021068626873566keywords = diabetes (Clic here for more details about this article) |
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