Case Of Complete Agenesis Research Articles

The value of the cavum vergae vanishing sign for prenatal ultrasound diagnosis of fetal agenesis of the corpus callosum

Objective To explore the value of the cavum vergae vanishing sign for prenatal ultrasound diagnosis of fetal agenesis of the corpus callosum(ACC). Methods Fifty-one cases of ACC of 20-32 gestational weeks were confirmed by MRI or induced fetal autopsy. A random selection of 80 normal fetuses of 20-32 gestational weeks were chosed as control group. The displays of the cavum septum pellucidum(CSP) and the cavum vergae(CV) in the two groups were observed. Results There were 36 cases of complete agenesis of the corpus callosum (CACC) and 15 cases of partial agenesis of the corpus callusom(PACC) in ACC group. In 51 ACC cases, 43 cases were confirmed by prenatal MRI, while 8 cases were confirmed by postnatal MRI. The comparison of display of CSP and CV between the ACC group and the health group was as follows: ①CSP vanishing rate in ACC group was 70.6%(36/51), meanwhile the disappearance rate of CSP in the health group was 0(0/80), the difference between the two groups was statistically significant(χ2=77.870, P=0.000). ②CV vanishing rate in ACC group was 96.1% (49/51), meanwhile the disappearance rate of CV in the health group was 1.2%(1/80), the difference between the two groups was statistically significant (χ2=118.673, P=0.000). The correlation coefficient between the CV vanishing sign and the occurrence of ACC was 0.952 (P=0.000), while the correlation coefficient between the CSP vanishing sign and the occurrence of ACC was 0.771 (P=0.000). There were significant differences in CSP disappearance rate and CV disappearance rate between ACC group and control group at different gestational weeks (20-24 weeks, 25-28 weeks and 29-32 weeks) (all P<0.001). Conclusions The cavum vergae vanishing sign, as an important indirect sign of fetal agenesis of the corpus callosum, can be obtained quickly from horizontal transverse section of the cavum septum pellucidum. During the middle pregnancy, it could be an important prenatal ultrasound screening clue for fetal agenesis of the corpus callosum. Key words: Ultrasonography; Agenesis of the corpus callosum; Fetus; Prenatal diagnosis; The cavum vergae

Prenatal Sacral Anomalies Leading to the Detection of Associated Spinal Cord Malformations

Introduction: Systematic analysis of the spine is recommended as part of the basic sonographic examination. The aim of our study is to assess the proportion of spinal cord anomalies diagnosed following detection of a sacral anomaly. Material and Methods: We analyzed retrospectively collected data in a prenatal tertiary center during a 9-year period. Patients were referred for second-line ultrasound in the context of diabetes mellitus or following detection of pelvic or lower spine anomalies. We included all cases of sacral anomalies with available postnatal or postmortem outcomes (imaging and/or pathologic data) and excluded all cases of open dysraphism (myelomeningocele). Results: Nineteen patients were included. The mean gestational age was 28 weeks (21-39). Sacral anomalies included 2 cases of complete agenesis, 12 cases of partial agenesis, 4 segmentation anomalies, and 1 case of abnormal angulation of the sacral spine. Fourteen associated spinal cord malformations included 8 tethered spinal cords, 5 truncated spinal cords, and 1 lipoma of the filum terminale. All anomalies were confirmed by postnatal or postmortem examinations. Conclusions: Sacral anomalies detected during basic sonographic examination represent an important warning sign for associated spinal cord anomalies, with possible poor neonatal outcome.

Thyroid isthmus agenesis

The thyroid gland is the largest of all endocrine glands and is placed anteriorly in the lower neck in level with fifth cervical and first thoracic vertebrae. It is H shaped with two large lateral lobes, connected by a narrow isthmus in the midline. The gland bears very important clinical significance; both physiologically and pathologically and; a wide range of variations and anomalies of the gland have been reported. We report a case of complete agenesis of thyroid isthmus found during routine cadaveric dissection for the purpose of teaching learning of medial undergraduates at our department. This anomaly is quite uncommon and bears important clinical importance in wide fields of surgical and medical specialties. The embryological basis of the anomaly is high separation of a thyroglossal duct, which can give rise to two independent thyroid lobes with no isthmus.

A Case of Complete Agenesis of the Dorsal Pancreas in a Patient with Newly Diagnosed Diabetes Mellitus

Agenesis of the dorsal pancreas is a rare congenital anomaly caused by underdevelopment or agenesis of the dorsal pancreatic bud that forms the upper head, neck, body and tail of the pancreas. We report a case of agenesis of the dorsal pancreas, which was found under examination of diabetes mellitus (DM). A 16-year-old girl was transferred to our hospital because of a positive urine glucose reading during a school-conducted examination. Abdominal computed tomography and magnetic resonance cholangiopancreatography revealed the deficit of the pancreatic body and tail. Diabetes-associated autoimmune antibodies were negative in a blood test. Decreased β-cell function was demonstrated by oral glucose tolerance and glucagon stimulation tests. Although the notion that agenesis of the dorsal pancreas leads to decreased endocrine or exocrine function is controversial, the results of this study suggest that we should consider these causes of diabetes mellitus. When treating a young patient with diabetes mellitus, we should consider causes of diabetes mellitus such as congenital anomaly or maturity onset diabetes, in addition to type 1 and type 2 diabetes mellitus. (J Korean

PARTIAL AGENESIS OF THE CORPUS CALLOSUM

Although Reil1described the first case of agenesis of the corpus callosum as early as 1812, the apparent rarity of the condition is indicated by the fact that Baker and Graves,2reviewing the literature in 1933, discovered only 81 reported cases, to which they added 1 of their own. Of the 82 cases, only 2 were reported in the United States. Archambault,3in 1911, described a case of complete agenesis. In the case reported by Baker and Graves the agenesis was partial. Until the introduction of ventriculography in 19184and encephalography in 19195by Dandy there was no method of diagnosing the condition during life, and for this reason agenesis of the corpus callosum was invariably discovered unexpectedly at autopsy. Apparently Guttmann6made the first encephalographic study of this condition in 1929. His description of the encephalographic picture was typically that of agenesis of