OBJECTIVE: To explore the genetic etiology of Vici syndrome in a Chinese family. METHODS: Whole exome sequencing (WES) technology was used to detect gene variants in a fetus of abnormal ultrasonic structure without abnormalities in routine chromosome karyotype analysis and SNP-array. Sanger sequencing and bioinformatics prediction were performed for the suspected variants of the fetus and parents. RESULTS: The fetus and the elder sister have carried c. 2427delC (p.T809fs) and c.1886A>T (p.E629V) compound heterozygous variants of the EPG5 gene, which were respectively inherited from their mother and father. Neither variant was reported previously. According to ACMG guidelines, the c.2427delC variant was predicted as pathogenic, while the c.1886A>T variant was of uncertain significance. PolyPhen-2 and PROVEAN software indicated that c.1886A>T variant was probably damaging. CONCLUSION The c.2427delC and c.1886A>T variants of the EPG5 gene probably underlie the pathogenesis of the Vici syndrome in this family. Above finding has enriched the variational spectrum of EPG5 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.
Aged ; Agenesis of Corpus Callosum ; Autophagy-Related Proteins ; Cataract ; Female ; Humans ; Mutation ; Pregnancy ; Vesicular Transport Proteins/genetics* ; Whole Exome Sequencing

Primary partial empty sella occurs when less than 50% of an enlarged or deformed sella turcica is filled with cerebrospinal fluid in the setting of unidentified etiologic pathological conditions. Prepubertal hypogonadotropic hypogonadism presenting as its main manifestation is rare since its peak incidence commonly occurs late at 30 to 40 years of age and has a sexual predilection for female. We described a case of 20-year-old male who presented with micropenis and absent secondary sex characteristics. Work up showed cranial MRI finding of partial empty sella, low testosterone, LH, FSH, Estradiol and Beta HCG levels. Sex hormone replacement may not improve fertility for this case but may help produce and maintain virilization and prevent future complications of hypogonadotropic hypogonadism.
Penis agenesis ; Genital Diseases, Male ; Penis ; hypogonadism

Congenital absent sternum is a rare birth defect that requires early intervention for optimal long-term outcomes. Descriptions of the repair of absent sternum are limited to case reports, and no preferred method for management has been described. Herein, we describe the use of porcine acellular dermal matrix to reconstruct the sternum of an infant with sternal infection following attempted repair using synthetic mesh. The patient was a full-term male with trisomy 21, agenesis of corpus callosum, ventricular septal defect, patent ductus arteriosus, right-sided aortic arch, and congenital absence of sternum with no sternal bars. Following removal of the infected synthetic mesh, negative pressure wound therapy with instillation was used to manage the open wound and provide direct antibiotic therapy. When blood C-reactive protein levels declined to ≤2 mg/L, the sternum was reconstructed using porcine acellular dermal matrix. At 21 months postoperative, the patient demonstrated no respiratory issues. Physical examination and computed tomography imaging identified good approximation of the clavicular heads and sternal cleft and forward curvature of the ribs. This case illustrates the benefits of negative pressure wound therapy and acellular dermal matrix for the reconstruction of absent sternum in the context of infected sternal surgical site previously repaired with synthetic mesh.
Acellular Dermis ; Agenesis of Corpus Callosum ; Aorta, Thoracic ; C-Reactive Protein ; Congenital Abnormalities ; Down Syndrome ; Ductus Arteriosus, Patent ; Early Intervention (Education) ; Head ; Heart Septal Defects, Ventricular ; Humans ; Infant ; Male ; Methods ; Negative-Pressure Wound Therapy ; Physical Examination ; Ribs ; Sternum ; Surgical Mesh ; Thoracic Surgery ; Wounds and Injuries

OBJECTIVE: With recent advances and frequent use of prenatal ultrasound, the antenatal diagnosis of agenesis of the corpus callosum (ACC) is not rare in obstetrics practices. However, information regarding the long-term neurological outcome remains uncertain. The aim of this study was to investigate clinical outcomes of prenatally diagnosed ACC and to analyze postnatal neurodevelopmental outcomes of ACC neonates born in our single center. METHODS: We retrospectively reviewed 56 cases of prenatally suspected ACC referred to our center. RESULTS: Fifty-six fetuses were diagnosed with ACC, and 12 of those were followed-up in our center until delivery. Of the remaining 44, 7 were delivered after being referred back to the original hospital, 23 were lost to follow-up, and 14 had unknown outcomes. Among all 56, 29 were considered to have isolated ACC and 27 were considered to have non-isolated ACC. Of the 10 live fetuses delivered in our center, four had isolated ACC, three had non-isolated ACC, and the rest had outcomes unrelated to ACC. Neurodevelopmental outcome was followed-up until approximately age 3 years. Of the four with isolated ACC, three (75%) had normal neurodevelopmental outcomes. CONCLUSION: Similar to other studies, the results of our single-center study included positive neurodevelopmental outcomes for those with isolated ACC. However, despite our endeavor to counsel patients with prenatally diagnosed ACC, the delivery rate in our center was quite low. Therefore, larger, multicenter, retrospective studies including long-term neurological development outcomes are crucial and urgently needed to provide better counseling.
Agenesis of Corpus Callosum* ; Corpus Callosum ; Counseling ; Fetus ; Humans ; Infant, Newborn ; Korea* ; Lost to Follow-Up ; Obstetrics ; Prenatal Diagnosis ; Retrospective Studies ; Ultrasonography

INTRODUCTION: Dysgenesis of the corpus callosum is a brain abnormality  involving  the  large  nerve  fibers  connecting  the  two  hemispheres  of  the  brain.  The  corpus  callosum  connects  the  left  and  right  cerebral  hemispheres  and  facilitates  interhemispheric  communication.  When it is malformed, these functions might be affected.
CLINICAL PRESENTATION: This case report documents a patient with a malformed corpus callosum. She came in for first-onset generalized tonic clonic seizures. As part of a routine workup  for  patients  with  first-onset  seizures,a computed tomography (CT) scan of the brain was done. It revealed dysgenesis  of  the  corpus  callosum.  She  was  started on valproic acid and was discharged improved.
CONCLUSION: Callosal disorders  usually present with some degree of neurologic impairment. The index case however has  no  detectable  neurologic  deficits  and  is  apparently normal.  The  rarity  of  a  dysgenetic  corpus  callosum mandates more epidemiological studies to further elucidate this disease.

Human ; Female ; Adult ; Corpus Callosum ; Seizures ; Valproic Acid ; Agenesis Of Corpus Callosum ; Brain Diseases ; Nervous System Malformations ; Brain ; Cerebrum ; Nerve Fibers ; Epidemiologic Studies

Herlyn-Werner-Wunderlich Syndrome (HWWS) is a triad of uterus didelphys, unilateral obstructed hemivagina, and ipsilateral renal agenesis.
In the review of the locally published literature, there have been seven HWWS cases reported, none of whom were pregnant.
A 24-year-old was diagnosed with Herlyn-Werner-Wunderlich Syndrome during caesarean section of a term pregnancy, occupying the right hemiuterus with obstructed hemivagina. Ultrasound showed uterus didelphys with communicating endometrial cavities. MRI revealed uterus didelphys, two cervices and an obstructed right hemivagina. The patient refused excision of vaginal septum. Two years later, she delivered spontaneously to a live fetus, occupying the hemiuterus with the unobstructed hemivagina.
In pregnant women with HHWS, who did not undergo prior surgical intervention, the mode of delivery depends on the side of pregnancy. If it is located on the obstructed hemivagina, caesarean section is inevitable. If it is on the unobstructed side, there is hope for vaginal delivery.

Human ; Female ; Adult ; Pregnancy ; Hereditary Renal Agenesis ; Uterine Anomalies ; Uterus ; Urogenital Abnormalities ; Ultrasonography ; Cesarean Section ; Magnetic Resonance Imaging ; Fetus

Pai syndrome is a rare disorder, first described in 1987. Diagnostic criteria are the presence of the nasal polyp and one of the following: midline cleft lip, congenital polyp of mid-anterior alveolar process, and pericallosal lipoma. Thirty-six cases of Pai syndrome have been described so far. We report 1 case of Pai syndrome accompanied by congenital nasal polyp and callosal lipoma with partial agenesis of corpus callosum, the first time in Korea.
Agenesis of Corpus Callosum ; Alveolar Process ; Cleft Lip ; Korea ; Lipoma ; Nasal Polyps ; Polyps

OBJECTIVETo detect structural changes in the brain in fetuses with agenesis of the corpus callosum (ACC) and holoprosencephaly (HPE) in the first trimester.

METHODSThe ultrasound data were analyzed retrospectively in 620 normal singleton fetuses between 11 and 13(+6) gestational weeks, 5 fetuses diagnosed to have ACC, and 13 fetuses with HPE. The midbrain diameter (MD) and falx diameter (FD) were measured and their ratio (MD/FD) was calculated for comparative analysis.

RESULTSNo significant difference was found in the MD, FD, and MD/FD ratio between fetuses with ACC and HPE (P>0.05). Compared to the normal fetuses, all the fetuses with ACC and HPE showed significantly increased mean MD and MD/FD ratio (P<0.05); 4 (80%) fetuses with ACC and 11 (84.6%) with HPE had a reduced FD. All the fetuses with ACC and HPE had MD/FD ratios greater than 1, which were below 1 in all the normal fetuses.

CONCLUSIONIn the first trimester, fetuses with ACC and HPE have measurable abnormalities in the midbrain and falx area of the brain, and these changes, represented by abnormal midsagittal MD, FD and their ratio, can be of value in detecting ACC or HPE in fetuses in the first trimester.

Agenesis of Corpus Callosum ; diagnosis ; Corpus Callosum ; diagnostic imaging ; Female ; Fetus ; Gestational Age ; Humans ; Pregnancy ; Pregnancy Trimester, First ; Retrospective Studies ; Ultrasonography, Prenatal

Agenesis of Corpus Callosum ; diagnostic imaging ; genetics ; pathology ; Brain ; diagnostic imaging ; pathology ; Chromosomes, Human, Pair 15 ; Humans ; Infant, Newborn ; Magnetic Resonance Angiography ; Male ; Radiography ; Translocation, Genetic ; genetics

OBJECTIVETo detect potential mutation of Doublecortin (DCX) gene in a patient featuring X-linked subcortical laminar heterotopia (X-SCLH) and epilepsy.

METHODSMutation of the DCX gene was screened by PCR and direct sequencing. Pathogenicity of the mutation was analyzed with a PolyPhen-2 software.

RESULTSA de novo missense mutation c.971T>C (p.Phe324Ser) was discovered.

CONCLUSIONA diagnostic method for X-SCLH has been established, which may facilitate diagnosis and genetic counseling of patients featuring this disease.

Agenesis of Corpus Callosum ; diagnosis ; genetics ; Base Sequence ; Brain ; pathology ; Child ; Classical Lissencephalies and Subcortical Band Heterotopias ; diagnosis ; genetics ; Electroencephalography ; Epilepsy ; diagnosis ; genetics ; Exons ; Female ; Humans ; Magnetic Resonance Imaging ; Microtubule-Associated Proteins ; genetics ; Mutation ; Neuropeptides ; genetics