Edit concept Question Editor Create issue ticket

Alobar Holoprosencephaly

HPE


Presentation

  • The histological findings of proboscis, single lens and single ventricle with neural tissue remnants are presented.[ncbi.nlm.nih.gov]
  • The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region.[ncbi.nlm.nih.gov]
  • The survivors can present with neonatal seizures and/or infantile spasms. We report on an unusually long-lived patient with alobar holoprosencephaly and minor facial dysmorphism, who developed generalized epilepsy during childhood.[ncbi.nlm.nih.gov]
  • We present the ultrasound detection of alobar holoprosencephaly (HPE) with cyclopia in an embryo of 9 weeks 2 days last menstrual period (LMP)-based gestational age; the crown-rump length (CRL) was 22 mm.[ncbi.nlm.nih.gov]
  • […] not associated with midline facial abnormalities no cortex present, or sometimes small islands of tissue severe hydrocephalus falx cerebri usually present, but may be absent due to severe long-standing hydrocephalus bilateral choroid plexus thalami not[radiopaedia.org]
Fishing
  • Chromosomal analysis using G- and C-banding techniques and fluorescence in situ hybridization (FISH) showed an apparent monocentric isochromosome.[ncbi.nlm.nih.gov]
  • Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation[ncbi.nlm.nih.gov]
  • Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.[ncbi.nlm.nih.gov]
Atrial Septal Defect
  • Investigations showed bilateral congenital glaucoma, alobar holoprosencephaly, severe ventriculomegaly and absence midline structures of the brain, a large atrial septal defect. The karyotype was 46,XX.[ncbi.nlm.nih.gov]
  • The mother was affected by gestational diabetes mellitus and was obese (BMI 30 kg/m(2)). 2D Ultrasound depicted the cerebral malformation, cyclopy, proboscis, cardiac defects (atrial septal defect, hypoplastic left heart, anomalous communication between[ncbi.nlm.nih.gov]
Dysmorphic Face
  • face with flattened nose, and the abdominal eventration that looked like an abdominal air bag on 3D volumetric reconstruction.[ncbi.nlm.nih.gov]
Macroglossia
  • […] diamniotic twin pregnancy complicated with pre-eclampsia and intrahepatic cholestasis of pregnancy, and one of them was prenatally diagnosed with alobar HPE by ultrasonography with frontal bossing, hydrocephaly, hypotelorism of eyes, flat nasal bridge, macroglossia[ncbi.nlm.nih.gov]
Acrocyanosis
  • We report on 2 cases of alobar holoprosencephaly, with similar physical findings, including microcephaly, microphthalmia, cebocephalus, choanal atresia, pseudo cleft palate, distended abdomen, and acrocyanosis.[ncbi.nlm.nih.gov]
Low Set Ears
  • Clinical examination revealed microcephaly, hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears, a short neck, preaxial polydactyly of the right hand, and overriding toes.[ncbi.nlm.nih.gov]
Neonatal Seizures
  • The survivors can present with neonatal seizures and/or infantile spasms. We report on an unusually long-lived patient with alobar holoprosencephaly and minor facial dysmorphism, who developed generalized epilepsy during childhood.[ncbi.nlm.nih.gov]
Tonic-Clonic Seizure
  • After birth, the diagnosis of the fetus confirmed holoprosencephaly with facial anomalies and demonstrated repeated tonic-clonic seizure, severe respiratory failure, cyanosis, decreased muscle tone, palor, and apnea.[ncbi.nlm.nih.gov]
Cryptorchidism
  • As a result of poor maternal heath and fetal anomaly, the parents elected to terminate the pregnancy, and a 986-g male fetus was delivered with hypotelorism, HPE, cebocephaly, micropenis, and cryptorchidism.[ncbi.nlm.nih.gov]
  • Autopsy: alobar holoprosencephaly; cyclopia, synophtalmia, sinotia, arhinia, agnatia; cardiopathy, hypoplastic lungs; bilateral cryptorchidism; gastric hypoplasia and umbilical cord with two vessels.[scielo.iics.una.py]

Workup

  • Acknowledgment I, sincerely thank all my staff and co-residents for their cooperation during the workup of this case report. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest. References 1.[cjhr.org]
  • They may have neurodevelopmental issues. [11, 12, 13, 14, 15] Workup Prenatal diagnosis options include karyotype analysis, microarray testing, ultrasonography, and magnetic resonance imaging (MRI).[emedicine.medscape.com]
Hyponatremia
  • Secretion of inappropriate antidiuretic hormone syndrome (SIADH) is a disorder of fluid-electrolyte balance caused by the inability to suppress the secretion of antidiuretic hormone (ADH) resulting in the development of hyponatremia.[ncbi.nlm.nih.gov]

Treatment

  • We report a newborn infant with AHP who had resistant SIADH refractory to treatment, to draw attention to the coexistence of these entities and to contribute to the literature with the management of this challenging condition.[ncbi.nlm.nih.gov]
  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[books.google.com]
  • Treatment of hydrocephalus may improve developmental and functional outcomes and reduce irritability. Seizures/epilepsy - About 40% of children with HPE have epilepsy that requires treatment.[health.state.mn.us]
  • […] for Holoprosencephaly Treatment is largely symptomatic.[healthcommunities.com]
  • Top of page Is there a treatment for holoprosencephaly? Each child has a unique degree of malformations. Treatment must be individualized, although common problems occur. In general, treatment is largely symptomatic and supportive.[genome.gov]

Prognosis

  • Early detection by the prenatal ultrasound examination is important because of poor prognosis of alobar holoprosencephaly.[ncbi.nlm.nih.gov]
  • Because of the poor prognosis of alobar holoprosencephaly, early prenatal diagnosis is recommended.[ncbi.nlm.nih.gov]
  • Prognosis for Infants with Holoprosencephaly Infants born with most forms of holoprosencephaly face a poor prognosis. Few who survive achieve significant mental development.[healthcommunities.com]
  • Top of page What is the prognosis? The prognosis for individuals with the disorder depends on the severity of the brain and facial malformations and associated clinical complications.[genome.gov]
  • The prognosis for life isn't good and most babies don't survive if they go full term and are actually born.[netmums.com]

Etiology

  • The etiology of the holoprosencephalies is heterogeneous and has been attributed to both environmental and genetic causes.[appliedradiology.com]
  • (Etiology) Nonsyndromic Holoprosencephaly can be caused by genetic mutations, in one or many genes, involved in brain and face development.[dovemed.com]
  • Cyclopia etiology is heterogeneous, with a prevalence of 1.05 in100,000 births. We report a case of cyclopia with sinoftalmia in a fetus of 21 weeks where… CONTINUE READING Figures and Topics from this paper.[semanticscholar.org]
  • Defective sterol metabolism leading to abnormalities in the sonic hedgehog ( SHH ) signaling pathway may have a role in its causation. [21, 22, 23, 24, 25] However, many genes besides SHH have also been associated with holoprosencephaly. [26] Etiology[emedicine.medscape.com]

Epidemiology

  • In a large epidemiologic study, Croen et al found the prevalence of holoprosencephaly to be 1.2 per 10,000 live births and fetal deaths.[appliedradiology.com]
  • Summary Epidemiology About 15% to 25% of non-chromosomal HPE patients have alobar type. Clinical description Significant clinical variability and genetic complexity underlie HPE.[orpha.net]
  • Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology. 1977 Dec. 16(3):261-72. [Medline]. Orioli IM, Castilla EE. Epidemiology of holoprosencephaly: Prevalence and risk factors.[emedicine.medscape.com]
  • Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology . 1977 Dec. 16(3):261-72. [Medline] . Orioli IM, Castilla EE. Epidemiology of holoprosencephaly: Prevalence and risk factors.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology A combination of genetic and environmental factors is thought to be responsible for the pathogenesis of holoprosencephaly.[emedicine.medscape.com]

Prevention

  • Prenatal diagnosis of HPE should include a biochemical examination to identify metabolic factors such as maternal diabetes, and preventive management should be considered in subsequent pregnancies to achieve good control of maternal diabetes.[ncbi.nlm.nih.gov]
  • Currently, there are no specific methods or guidelines to prevent Nonsyndromic Holoprosencephaly genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy[dovemed.com]
  • Prevention Because the cause of holoprosencephaly (HPE) is poorly understood, there is no known method of prevention for the disorder. Infants born to diabetic mothers may have an increased risk of having HPE.[naturallivingcenter.net]
  • Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. ‏ الصفحة 332 - Crane JP, LeFevre ML, Winborn RC, et al.[books.google.com]
  • Holoprosencephaly Malpractice Though holoprosencephaly cannot be prevented at this time, it is detectable early on with prenatal ultrasounds. It can be seen as early as nine to 14 weeks, in some cases.[birthinjuryjustice.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!