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Holoprosencephaly Type 2

HPE


Presentation

  • We showed this PowerPoint presentation at his Praise Party![videoyoutub.ru]
  • Conclusion From this it is concluded that central nervous system anomalies may present as poor apgar score at birth and subsequently global development delay.[omicsonline.org]
  • .  Presentation and outcome are variable Seizures Hemiparesis Developmental deficits  Usually, the severity of symptoms is related to the amount of brain affected by the abnormality 5.[slideshare.net]
  • For a general discussion of epidemiology, clinical presentation and pathology, please refer to the article on holoprosencephaly.[radiopaedia.org]
  • Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery[icd10data.com]
Crying
  • I was crying for many reasons, one being a sort of relief, it was "only" a cleft lip and palate. Of all the scenarios and defects that went through my mind, a cleft lip and palate was much easier to hear. If I had known then what I know now.[texaschildrens.org]
  • The child was born of normal vaginal delivery at term didn’t cry immediately after birth requiring respiratory support in the form of bag and mask ventilation for few minutes due to cyanosis.[omicsonline.org]
Sepsis
  • Baby subsequently developed sepsis and was transferred to our centre for the further management. On clinical examination body temperature of baby was 1010F, HR: 90 beats/min and RR: 20/min. Laboratory examination showed leucocytosis.[casereports.in]
Amyloidosis
  • , Arctic type Hereditary cerebral hemorrhage with amyloidosis, Dutch type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian[csbg.cnb.csic.es]
Hypertension
  • […] sclerosis Berardinelli-Seip congenital lipodystrophy Biliary atresia Combined oxidative phosphorylation defect type 17 Diffuse cutaneous systemic sclerosis Familial hypocalciuric hypercalcemia type 3 Familial prostate cancer Heritable pulmonary arterial hypertension[csbg.cnb.csic.es]
  • The mother had no history of diabetes mellitus , hypertension , drug intake or irradiation during pregnancy with normal titers of toxoplasma, rubella, syphilis and hepatitis B.[omicsonline.org]
Cyanosis
  • The child was born of normal vaginal delivery at term didn’t cry immediately after birth requiring respiratory support in the form of bag and mask ventilation for few minutes due to cyanosis.[omicsonline.org]
Small Eyes
  • Facial findings may include a single eye (cyclopia) or very closely spaced eyes (ethmocephaly) or absent eyes (anophthalmia), or very small eye (microphthalmia) with a tubular-shaped nose (proboscis); or closely spaced eyes (hypotelorism) and a flattened[rarediseases.info.nih.gov]
Narrow Nose
Confusion
  • Message: Central nervous system malformations may be symptomatic from birth and may present with poor apgar score at birth, refractory seizures and global developmental delay due to which they may be confused with birth asphyxia.[omicsonline.org]
Tonic Posturing
  • The child developed seizures from the day two of life and required three anticonvulsants namely phenobarbitone, valparin and levetiracetam but still having intermittent tonic posturing. There was gross global developmental delay.[omicsonline.org]

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]

Treatment

  • While there is no cure for HPE, treatment is symptomatic and supportive.[texaschildrens.org]
  • Treatment of acute hyperkalaemia in adults [PDF] This guideline has been developed to improve the treatment of acute hyperkalaemia and reduce the risk of complications associated with hyperkalaemia and its treatment. This guideline is a...[evidence.nhs.uk]
  • Facial nerve paralysis can result in devastating consequences like deficiency of facial expression, impaired speech and ocular complications; therefore, its early detection has a critical impact in treatment.[posterng.netkey.at]
  • 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]

Prognosis

  • Timely neuroimaging can make the diagnosis and thus the prognosis.[omicsonline.org]
  • Last updated: 3/9/2018 What is the prognosis for holoprosencephaly? The prognosis depends on the sub-type.[rarediseases.info.nih.gov]
  • Treatment and prognosis The prognosis is dependent on the type of HPE with almost all alobar and semilobar forms incompatible with extrauterine life. There may be recurrence risk for 6% with non chromosomal sporadic HPE.[radiopaedia.org]
  • Prognosis Prognosis depends on severity and the associated complications. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Alobar and semilobar have poor prognosis while lobar has variable mental impairment [ 9 - 11 ]. Our case was lobar type of HP diagnosed on cranial ultrasound and confirmed by MRI examination.[casereports.in]

Etiology

  • .  Sometimes called false porencephaly, such cases are better labeled by their etiological cause if this is known, e.g. post-traumatic or post infarction cerebral cavities 46.  Porencephalic cavities or clefts can be identified or suspected by ultrasound[slideshare.net]
  • Etiology The etiology is very heterogeneous: from chromosomal abnormalities (such as trisomy 13), known syndromes (such as Smith-Lemli-Opitz syndrome, Charge syndrome) (see these terms) to environmental factors (maternal diabetes or hypocholesterolemia[orpha.net]
  • The etiology of HP is heterogeneous. Most cases occur sporadically and have a normal karyotype. However, the disorder can be associated with a variety of chromosomal abnormalities such as trisomy 13, ring chromosomes and deletions [ 1, 4 - 6 ].[casereports.in]
  • The etiology is often unknown, but is believed to be multifactorial e.g. genetic predisposition exposure to environmental factor.[quizlet.com]

Epidemiology

  • For a general discussion of epidemiology, clinical presentation and pathology, please refer to the article on holoprosencephaly.[radiopaedia.org]
  • 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]
  • Summary Epidemiology Prevalence is estimated to be 1/10,000 live and still births and 1/250 conceptuses. HPE has worldwide distribution.[orpha.net]
  • Epidemiology of Holoprosencephaly. Prevalence and risk factors. Am J Med Genet C Semin Med Genet 2010;154 C(1):13-21. Daniel E, Pineda-Avares, Dubourg C, et al.[degruyter.com]
  • Holoprosencephaly in human embryos: Epidemiologic studies in 150 cases. Teratology, 1977; 16: 261-277. Siebert JR., Astley S. Holoprosencephaly in a fetal Macaque following weekly exposure to ethanol. Teratology, 1991; 44: 29-36. Berry SM.[revista.fecolsog.org]
Sex distribution
Age distribution

Pathophysiology

  • Active research into the pathophysiology of holoprosencephaly has revealed multiple teratogenic and genetic causes (chromosomal and single gene); further genetic characterization is ongoing.[emedicine.medscape.com]

Prevention

  • This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time.[books.google.com]
  • The thalami are fused with absent third ventricle. [5] Failure of inward rotation of primitive cerebral hemispheres prevents the thin membranous roof of the ventricular cavity from being enfolded within the brain.[cjhr.org]
  • Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997-2009. Am J Med Genet A. 2015 May. 167A (5):1071-81. [Medline]. Mercier S, Dubourg C, Belleguic M, Pasquier L, Loget P, Lucas J.[emedicine.medscape.com]

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