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Building Your Child's Care Team

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At a Glance

Caring for a child with Holoprosencephaly (HPE) requires a multidisciplinary medical team. Key specialists include pediatric neurologists for seizures, neurosurgeons for hydrocephalus, and endocrinologists for hormone imbalances like central diabetes insipidus, all coordinated by parents.

Key Takeaways

  • • A child with Holoprosencephaly requires a multidisciplinary medical team to manage complex brain, facial, and endocrine challenges.
  • • Pediatric neurologists and neurosurgeons are critical for managing neurological complications such as epilepsy and hydrocephalus.
  • • Endocrinologists play a vital role in treating midline brain defects that cause central diabetes insipidus or pituitary hormone deficiencies.
  • • Feeding specialists, gastroenterologists, and therapists are essential to ensure safe swallowing, prevent aspiration, and maximize developmental potential.

Because Holoprosencephaly (HPE) affects the development of the brain, face, and endocrine system, caring for a child with this diagnosis requires a team of specialists working together [1][2]. As a parent, you are the most vital member of this team—you are your child’s primary advocate and the person who coordinates their care [1].

Building the Multidisciplinary Team

A child with HPE often needs support from several medical fields to manage the physical and developmental challenges of the condition [1].

  • Pediatric Neurologist: The “home base” for brain-related care. They manage epilepsy (seizures) and monitor neurodevelopmental progress [3][4].
  • Neurosurgeon: Focuses on structural issues, such as hydrocephalus (fluid buildup in the brain) or the presence of a dorsal cyst (a fluid-filled sac at the back of the brain) [5][6].
  • Endocrinologist: Manages the hypothalamic-pituitary axis. Because the midline of the brain is affected, the pituitary gland may not produce the hormones needed for growth, thyroid function, or water balance [7][8].
  • Otolaryngologist (ENT): Addresses airway issues, cleft lip or palate, and hearing concerns related to ear and facial anatomy [9][10].
  • Feeding Specialist & Gastroenterologist: Helps manage dysphagia (difficulty swallowing) and determines if a child needs a feeding tube to prevent aspiration (inhaling food or liquid into the lungs) [10][11].
  • Therapists (PT/OT/ST): Physical, Occupational, and Speech-Language Therapists are essential for helping your child reach their highest developmental potential and managing day-to-day motor challenges [12].
  • Geneticist: Helps families understand the underlying cause of HPE and discusses the risk of the condition occurring in future pregnancies [13].

Managing Common Complications

Hydrocephalus and Surgical Care

Hydrocephalus occurs when cerebrospinal fluid (CSF) builds up, increasing pressure inside the skull [5].

  • Shunting: The most common treatment is a ventriculoperitoneal (VP) shunt, a tube that drains excess fluid from the brain into the abdomen [5].
  • Challenges: In children with severe HPE, shunts can sometimes fail if the abdomen cannot absorb the fluid properly. In these cases, a neurosurgeon might recommend a ventriculoatrial (VA) shunt, which drains fluid into the heart instead [5][14].

Endocrine and Hormone Support

The hypothalamus and pituitary gland sit right in the center of the brain’s midline. When these are affected, a child may develop Central Diabetes Insipidus (CDI), a condition where the body cannot balance water, leading to excessive urination and dehydration [15][16].

  • Treatment: CDI is typically managed with a medication called desmopressin (DDAVP), which helps the body retain water [17].
  • Panhypopituitarism: Some children may also need replacement hormones for thyroid function, growth, or cortisol production [18][19].

Seizure Management

Epilepsy is common in children who survive the initial newborn period with HPE [2].

  • Care Goal: The goal of treatment is to minimize seizures while maintaining the child’s quality of life [2].
  • Medication: Seizures are managed with anti-seizure medications (ASMs). Because every child’s brain structure is unique, finding the right medication or combination of medications often requires close collaboration with a neurologist [3][4].

Empowering the Parent-Advocate

Managing a complex condition like HPE is a marathon, not a sprint. By building a team of specialists who communicate with each other, you ensure your child receives holistic care that addresses both their medical needs and their overall comfort.

Frequently Asked Questions

Which medical specialists do we need for a child with Holoprosencephaly?
A child with HPE typically needs a collaborative team including a pediatric neurologist, neurosurgeon, endocrinologist, otolaryngologist, feeding specialists, and physical, occupational, and speech therapists.
How is hydrocephalus managed in children with HPE?
Hydrocephalus is usually treated surgically with a ventriculoperitoneal (VP) shunt, which drains excess fluid from the brain into the abdomen. If the abdomen cannot absorb the fluid properly, a ventriculoatrial (VA) shunt draining into the heart may be used instead.
What endocrine and hormone issues can occur with Holoprosencephaly?
Because HPE affects the brain's midline, children often develop Central Diabetes Insipidus, which causes water imbalance and dehydration. They may also experience panhypopituitarism, meaning they require replacement hormones for thyroid function, growth, or cortisol production.
How are seizures treated in children with HPE?
Seizures are managed using anti-seizure medications. Because every child's brain structure is unique, a pediatric neurologist will work closely with your family to find the best medication regimen to minimize seizures while supporting your child's quality of life.

Questions for Your Doctor

  • • Who will be the 'lead' physician coordinating our child's multidisciplinary care team?
  • • Has my child been screened for Central Diabetes Insipidus, and what are the signs of electrolyte imbalance I should watch for at home?
  • • What type of shunt or surgical intervention is most appropriate for our child's specific brain anatomy?
  • • Can we schedule a formal swallow study to ensure feeding is safe and aspiration risk is minimized?
  • • What is the protocol if our child has a seizure, and when should we start maintenance anti-seizure medication?

Questions for You

  • • What are my biggest concerns regarding my child's day-to-day comfort and care?
  • • Do I have a system for tracking medications, specialist appointments, and new symptoms?
  • • Which specialists have I already seen, and which ones do I still need to find for my child's team?

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Prognosis, Decisions, and Quality of Life The Spectrum of HPE: Subtypes and Features

References

  1. 1

    Holoprosencephaly from conception to adulthood.

    Weiss K, Kruszka PS, Levey E, Muenke M

    American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):122-127 doi:10.1002/ajmg.c.31624.

    PMID: 30182446
  2. 2

    Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.

    Malta M, AlMutiri R, Martin CS, Srour M

    Children (Basel, Switzerland) 2023; (10(4)) doi:10.3390/children10040647.

    PMID: 37189898
  3. 3

    Prenatal diagnosis of holoprosencephaly.

    Kousa YA, du Plessis AJ, Vezina G

    American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):206-213 doi:10.1002/ajmg.c.31618.

    PMID: 29770996
  4. 4

    Lobar holoprosencephaly with associated meningocele: A rare case report of a 25-year-old patient with multiple seizures.

    Barman P, Mishra GV, Murugan G, et al.

    Radiology case reports 2025; (20(4)):2004-2008 doi:10.1016/j.radcr.2025.01.029.

    PMID: 39963386
  5. 5

    Surgical Nuances in Ultrasound-Guided Percutaneous Distal Catheter Placement in Pediatric Ventriculoatrial Shunts.

    Reynoso LG, Rodríguez Lezama A, Hernández Martínez CA, et al.

    Cureus 2025; (17(5)):e84345 doi:10.7759/cureus.84345.

    PMID: 40535372
  6. 6

    Treatment of multi-loculated hydrocephalus using endoscopic cyst fenestration and endoscopic guided VP shunt insertion.

    Piyachon S, Wittayanakorn N, Kittisangvara L, Tadadontip P

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2019; (35(3)):493-499 doi:10.1007/s00381-019-04047-w.

    PMID: 30637466
  7. 7

    SHH signaling mediated by a prechordal and brain enhancer controls forebrain organization.

    Sagai T, Amano T, Maeno A, et al.

    Proceedings of the National Academy of Sciences of the United States of America 2019; (116(47)):23636-23642 doi:10.1073/pnas.1901732116.

    PMID: 31685615
  8. 8

    Successful treatment of hypodipsic/adipsic hypernatremia in a cat with lobar holoprosencephaly using oral desmopressin.

    Akashi Y, Park YT, Oetelaar GS, Murakami M

    JFMS open reports 2022; (8(1)):20551169221082542 doi:10.1177/20551169221082542.

    PMID: 35342639
  9. 9

    Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature.

    Oliver JD, Menapace DC, Cofer SA

    International journal of pediatric otorhinolaryngology 2017; (98()):4-8 doi:10.1016/j.ijporl.2017.04.035.

    PMID: 28583501
  10. 10

    Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly.

    Galeotti A, De Vincentiis GC, Sitzia E, et al.

    Children (Basel, Switzerland) 2024; (11(5)) doi:10.3390/children11050554.

    PMID: 38790549
  11. 11

    Congenital complete arhinia with alobar holoprosencephaly.

    Boakye-Yiadom AP, Nguah SB, Mahama H, Plange-Rhule G

    Ghana medical journal 2022; (56(3)):231-235 doi:10.4314/gmj.v56i3.14.

    PMID: 37449001
  12. 12

    Challenging issues arising in counseling families experiencing holoprosencephaly.

    Hadley DW, Kruszka P, Muenke M

    American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):238-245 doi:10.1002/ajmg.c.31627.

    PMID: 30182441
  13. 13

    Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant.

    Nonkulovski D, Sofijanova A, Spasovska T, et al.

    Balkan journal of medical genetics : BJMG 2023; (25(2)):71-76 doi:10.2478/bjmg-2022-0017.

    PMID: 37265970
  14. 14

    Ultrasound guided placement of the distal catheter in paediatric ventriculoatrial shunts-an appraisal of efficacy and complications.

    Clark DJ, Chakraborty A, Roebuck DJ, Thompson DN

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2016; (32(7)):1219-25 doi:10.1007/s00381-016-3120-4.

    PMID: 27207611
  15. 15

    Intravenous formulation of desmopressin delivered via oral and g tube routes for the treatment of central diabetes insipidus: First experience in infants.

    Lim WY, Riba-Wolman R

    Clinical endocrinology 2020; (92(2)):179-181 doi:10.1111/cen.14125.

    PMID: 31715009
  16. 16

    Animal models of Central Diabetes Insipidus: Human relevance of acquired beyond hereditary syndromes and the role of oxytocin.

    Bernal A, Mahía J, Puerto A

    Neuroscience and biobehavioral reviews 2016; (66()):1-14.

    PMID: 27118135
  17. 17

    Asymptomatic Hypernatremia in an Infant with Midline Defects.

    Geminiganesan S, Ramanan PV, J D, et al.

    EJIFCC 2021; (32(4)):467-471.

    PMID: 35046765
  18. 18

    Pseudo-intestinal obstruction after transsphenoidal surgery for craniopharyngioma.

    Ohta J, Kadoi Y, Tosaka M, Saito S

    Journal of surgical case reports 2022; (2022(5)):rjac254 doi:10.1093/jscr/rjac254.

    PMID: 35665389
  19. 19

    Diagnosis and Management of Combined Central Diabetes Insipidus and Cerebral Salt Wasting Syndrome After Traumatic Brain Injury.

    Wu X, Zhou X, Gao L, et al.

    World neurosurgery 2016; (88()):483-487 doi:10.1016/j.wneu.2015.10.011.

    PMID: 26485413

This page provides educational information on building a care team for a child with Holoprosencephaly. It is not medical advice; always consult your child's healthcare providers for specific treatment decisions.

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