PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. RESULTS: Fifteen male and 12 female patients with a mean age of 29.3±17.6 months were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with Möbius syndrome. CONCLUSION: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.
Brain ; Child* ; Comparative Genomic Hybridization* ; Cytogenetics ; Developmental Disabilities ; Diagnostic Tests, Routine ; Epilepsy ; Female ; Humans ; Hydranencephaly ; Karyotyping ; Male ; Muscle Hypotonia ; Rett Syndrome ; Schizencephaly

Hydranencephaly is a rare congenital disease defined as an absence of cerebral hemispheres with an intact thalamus, brain stem, and cerebellum. Generally, patients with hydranencephaly require cerebro-spinal fluid diversion due to progressive hydrocephalus. An excellent view of the choroid plexus and advancement of the neurosurgical endoscope were possible, leading to easy coagulation of the choroid plexus to balance cerebro-spinal fluid production without the use of a shunt device. We present this rare case and good treatment outcome from endoscopic coagulation of the choroid plexus.
Brain Stem ; Cerebellum ; Cerebrum ; Choroid Plexus* ; Endoscopes ; Humans ; Hydranencephaly* ; Hydrocephalus ; Thalamus ; Treatment Outcome

Hydranencephaly is a term used to describe a group of brain malformations in regard to developing any brain remnants. With most of the cerebral cortex absent, the cerebral hemispheres are replaced by cerebrospinal fluid (CSF), covered with leptomeninges and dura. Hydranencephaly is a rare isolated abnormality occurring in less than 1 per 10,000 births. With the cutting edged sonography, most of the hydranencephalies are screened in antenatal care. Therefore, it is very rare to observe a living preterm with hydranencephaly. From a history of a young, 19-year-old pregnant woman who did not look for the antenatal care, we found out that it was her first pregnancy, she was unmarried and intermittently had alcohol during the pregnancy. After home delivery, a preterm newborn assumed to be 28 weeks of gestational age was placed under surfactant therapy because of respiratory distress syndrome, and then received a mechanical ventilation. Brain sonography showed that most of the cerebral parenchyma, cortical tissue was absent at the 5th day after the birth. Magnetic resonance images (MRI) of brain showed that almost complete absence of cerebrum which was replaced by CSF, hydranencephaly at 81th days from birth. In summary, we report a preterm newborn with hydranencephaly from an adolescent, unmarried woman who had no antenatal care.
Adolescent ; Brain ; Cerebral Cortex ; Cerebrum ; Female ; Gestational Age ; Humans ; Hydranencephaly ; Illegitimacy ; Infant, Newborn ; Magnetic Resonance Spectroscopy ; Parturition ; Pregnancy ; Pregnant Women ; Respiration, Artificial ; Single Person ; Young Adult

Hydranencephaly is a condition that is characterized by an absent brain mantle along with the subadjacent white matter, with replacement of the cerebral hemispheres by a thin-walled membranous sac containing CSF. During brain sonograpy in a neonate with hydranencephaly, we have found a brain-in-brain appearance as an unusual sonographic artifact. We report here on this interesting sonographic artifact in a neonate with hydranencephaly, and this artifact was due to multipath reflection artifact of the ultrasound beam/wave, and we explain the underlying physics.
Artifacts ; Brain ; Cerebrum ; European Continental Ancestry Group ; Humans ; Hydranencephaly ; Infant, Newborn

PURPOSE: To report a large-angle exotropia, limited adduction, epiblepharon, high myopia and no pupillary light reflex in a patient with hydranencephaly. CASE SUMMARY: A ten-year-old girl with mental retardation presented with exotropia. The patient could fix only with the right eye and was unable to follow with either eye. The Krimsky test revealed 95 prism diopters of exotropia, and adduction was severely limited in both eyes. Pupillary light reflex was absent in both eyes. Cycloplegic refraction showed high myopia in both eyes. Slit lamp examination revealed lower lid epiblepharon and inferior corneal opacity in the right eye. No abnormal findings in the fundus examination were detected. A computed tomogram of the brain showed that the cerebral hemispheres were replaced by a cystic space filled with cerebrospinal fluid, compatible with hydranencephaly. Recession of the lateral rectus muscle and resection of the medial rectus muscle with epiblepharon repair of the lower lid were performed in both eyes. One week postoperatively, the epiblepharon was corrected, and the Krimsky test showed 16 prism diopters of left intermittent exotropia at near. CONCLUSIONS: When a combined manifestation of mental retardation, limited adduction, no pupillary light reflex and a large-angle exotropia is present, the possibility of a congenital developmental anomaly of the central nervous system including hydranencephaly should be suspected.
Brain ; Central Nervous System ; Cerebrum ; Corneal Opacity ; Exotropia ; Eye ; Humans ; Hydranencephaly ; Intellectual Disability ; Light ; Muscles ; Myopia ; Reflex

Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. The prognosis for children with hydranencephaly is generally poor, so many children with this disorder die before the age of 1 year. We experienced a patient with hydranencephaly who showed prolonged survival until age of 22 years. To our limited knowledge, this case may be the longest survival of a patient with hydranencephaly in the world.
Adult* ; Cerebrospinal Fluid ; Cerebrum ; Child ; Humans ; Hydranencephaly* ; Prognosis

Cytomegalovirus (CMV) is the most common viral cause of intrauterine infection, and it is the major infectious factor known to be associated with congenital mental retardation and deafness. We had experienced two cases of congenital cytomegalovirus infection at our department of Obstetrics and Gynecology, Chosun University School of Medicine. In both cases, prenatal ultrasonography was abnormal and suggested intrauterine infection and their outcome were different. We present these cases with brief literatures.
Cytomegalovirus Infections* ; Cytomegalovirus* ; Deafness ; Gynecology ; Humans ; Hydranencephaly ; Hydrops Fetalis ; Intellectual Disability ; Obstetrics ; Pregnancy ; Prenatal Diagnosis* ; Ultrasonography, Prenatal

Hydranencephaly is a condition in which cerebral hemisheres are absent and reduced to fluid-filled sacs in a normal skull. Numerous causes have been proposed, but bilateral occlusion of the internal carotid arteries during early fetal development can explain most of the pathologic abnormalities. We evaluated a case of hydranencephaly by brain CT and magnetic resonance angiography. Magnetic resonance angiography showed flow within the vertebral and basilar arteries without internal carotid intracranial flow above the supraclinoid segment. A brief review of the related literature was given on this subject.
Basilar Artery ; Brain ; Carotid Artery, Internal* ; Fetal Development ; Hydranencephaly* ; Magnetic Resonance Angiography ; Skull

In hydranencephaly, the cerebral hemispheres are absent or represented by membranous sacs with remnants of frontal, temporal or occipital cortex dispersed over the membrane. The brain stem is relatively intact. The cause of hydranencephaly is unknown, but bilateral occlusion of the internal carotid arteries during early fetal development can explain most of the pathologic abnormalities. We evaluated a case of hydranencephaly by magnetic resonance (MR) angiography. MR angiography shows both common, external carotid and vertebrobasilar arteries with no delineation of both internal carotid arteries from their origins. A brief review of the related literature was given on this subject.
Angiography ; Arteries ; Brain Stem ; Carotid Artery, Internal ; Cerebrum ; Fetal Development ; Hydranencephaly ; Magnetic Resonance Angiography* ; Membranes

Hydranencephaly is congenital absence of the cerebral hemispheres which are replaced by a large fluid-filled cavity. The brain stem and basal ganglia are well formed and rudiments of frontal k occipital cortex may be present. We experienced a case of hydranencephaly caused by both internal carotid artery stenosis. We diagnosed it through the brain CT sonogram and doppler sonogram. A brief review of the related literatures was made.
Basal Ganglia ; Brain ; Brain Stem ; Carotid Artery, Internal* ; Carotid Stenosis* ; Cerebrum ; Hydranencephaly*