Large Head in Small Baby

Case Summary

A 24-day-old male infant from Thahton, born at 36 weeks via emergency LSCS due to severe hydrocephalus detected antenatally, presented with progressive head enlargement since birth. Antenatal ultrasound showed marked dilation of both lateral and third ventricles. Birth history included foul-smelling liquor, maternal fever, and simple resuscitation, followed by a 6-day NICU stay with IV antibiotics (Ampicillin, Gentamycin, Cefotaxime). The baby has been feeding well since birth and exhibits no vomiting, seizures, limb weakness, or altered consciousness. He was diagnosed with congenital hydrocephalus and referred to a neurosurgeon for further evaluation including NECT of the head, but follow-up at the public hospital was discontinued and care continued at a private facility. On examination, the infant is alert with stable vitals, a significantly enlarged head (OFC 45 cm, >95th percentile), full and tense anterior fontanelle, sun-setting eyes, dilated scalp veins, widened sutures, and intact motor function. There is no family history of similar conditions, and both non-consanguineous parents are healthy.

Literature Review

Hydrocephalus is the symptomatic accumulation of cerebrospinal fluid (CSF) within the cerebral ventricles of the brain which may be due to blockage of the normal flow of the CSF, or absorption problems of the Pacchionian arachnoid or due to excessive production of CSF causing an imbalance between synthesis and absorption of the CSF. ¹ There are three main types of hydrocephalus: (1) Congenital Hydrocephalus – hydrocephalus presents at birth (2) Acquired Hydrocephalus – hydrocephalus that develops after birth and (3) Normal Pressure Hydrocephalus – which usually only develops in older people.²

Congenital Hydrocephalus can be caused by a condition such as spina bifida, or due to maternal infection such as mumps or rubella which during pregnancy. The overall global prevalence of congenital hydrocephalus varies between 2.2 to 18 per 10,000 live births.³ Many congenital hydrocephalus babies develop permanent brain damage. If left untreated, hydrocephalus can be fatal. The disease can also cause several long-term complications, such as learning disabilities, speech and memory problems, vision problems, short attention span, problems with organizational skills and physical coordination and epilepsy².

Common symptoms of congenital hydrocephalus include changes in the head (increase head size, a bulge or tense soft spot on the top of the head), nausea, vomiting, lethargy, irritability, poor eating, seizures, sunsetting of the eyes and muscle tone and strength problems.⁴

Congenital Dyserythropoietic Anaemia (CDA) is rare and is one of the inherited (autosomal recessive) blood disorders affecting red blood cells resulting in significant reduction in the functional red blood cells count.⁵ There are three main types of CDA (CDA-I, CDA-II and CDA-III), each having the specific morphological and clinical features with overlapping abnormalities in blood films.⁶ Common clinical findings include anaemia, jaundice and splenomegaly with diagnosis in childhood or early adult life. CDA although rare, needs to be considered in a child with recurrent anemia after excluding from other causes ⁷.

Currently, there is no documented direct association between congenital hydrocephalus and congenital dyserythropoietic anaemia in medical literature. Both conditions are rare and have distinct aetiologies. Congenital hydrocephalus mainly affects the central nervous system, while congential dyserythropoietic anaemia is associated with red blood cells production. There is no evidence to suggest a shared genetic or developmental pathway between the two disorders.

Detailed Case Presentation

A 24-day-old baby boy coming from Thahton town presented with increased head size since birth. He has no vomiting, no seizures, no limb weakness or drowsiness. He was diagnosed during prenatal period by USG revealing the result of severe hydrocephalus (both lateral & 3^rd Ventricles are dilated). He was born by emergency LSCS for severe hydrocephalus with foul-smelling liquor and maternal pyrexia at Central Women’s Hospital. His birth weight was 3.1 kg, late prem 36 weeks and needed simple resuscitation after birth (APGAR – 7,8,9). He needed hospitalization for 6 days and was given injection antibiotics (IV Ampicillin, Gentamycin, Cetotaxime) for 5 days at CWH, NICU. He can tolerate BF and EBM/FF 30cc 4 hourly via spoon since a day old. He was diagnosed as congenital hydrocephalus, underwent USG scan and was referred to a neurosurgeon. The Neurosurgical team suggested NECT(Head) and the parents lost follow-up at the public hospital and went to a private hospital. The baby is the first child in the family; a planned pregnancy. The mother took antenatal care at RHC since 3^rd month of her pregnancy and took folic acid daily. She took ATT for 2 times during pregnancy. She has known that the baby has increased head size since 3^rd trimester ultrasound scan and she had taken antenatal care under an OG specialist since then. She did not take any traditional medicines, antiepileptic drugs and any NSAID. She had fever for some days at 6^th month of pregnancy and did not take any injection and oral medication except paracetamol. The baby has no immunization yet. The father is a car driver, 34 years old, healthy and the mother is 23 years old, healthy and house-wife and they are not related. There is no history of similar illness in their family and relatives.

On examination, he is alert, GCS – 15/15, BP – 75/53 mmHg, PR- 120/min, SPO2 – 100% in air, OFC – 45 cm (above 95^th centile), Height – 59 cm (50th centile), Weight – 3 kg (15^th – 50^th centile), spine – NAD, Anus – normal tone, no bladder distension. His AF was full and tense, sun-setting eyes, cracked pot signs, dilated veins were present. Suture lines are widened, eyes can fix and follow, motor examination shows normal tone and normal power of all 4 limbs. His first-time admission was from 1.4.2025 to 12.4.2025.

He was then readmitted on 15.4.2025 with the chief complaint of AF bulging and fever x 3 days and was transferred to YCH for further management and treatment. He was then discharged on 22.4.2025.

His third-time admission at DMH was on 9.5.2025 to 29.5.2025 with the chief complaint of increase in head size, fever for 6 days, fits for 2 times on 9.5.2025. He was recently discharged from Thaton Private hospital (from 30.4.2025 to 7.5.2025) with the diagnosis of sepsis with operated congenital hydrocephalus. On 3^rd time admission, his AF was full and tense with OFC-45 cm, GCS – E-4, V-2, M-6 (12/15) and mild pallor. Apart from that, no significant findings were found.

Investigation

NECT (Head) on 1.4.2025 – Moderate hydrocephalus suggestive of Dandy-Walker variant

USG (Head) on 7.4.2025 – severe dilatation of both lateral, 3rd and 4th ventricles, no midline shift and severe thinning of cortical manti is seen.

USG (Head) on 9.5.2025 – Moderate hydrocephalus with VP Shunt in situ.

NECT (Head) on 10.5.2025 – Moderate to severe hydrocephalus suggestive of Dandy-Walker variant (Slight interval improvement seen).

Table 1. Investigation Summary

Table 2. Result of investigations

(Investigation on 30.4.2025, 3.5.2025, 6.5.2025 were done at Thaton Private Hospital. References were different from DMH.)

Treatment

Right sided V-P shunt insertion was done on the 3^rd day of admission (Day 27 old). The baby was kept in the NICU on the immediate post-op day and was stable, with oxygen 1L/min via nasal prongs. He was given injection antibiotic 3^rd generation cephalosporin for 7 days followed by oral cefixime for 5 days. He became anaemic on 3^rd post-op day of operation (Systolic murmur was also heard) and he was given packed cell transfusion for 3 times on 3^rd POD, 5^th POD, 8^th POD respectively. He was also given IV Vit K 1mg OD and IV Azeptil 30mg 8hrly for 4 days. The cause of anaemia was considered by hematologist as congenital dyserythropoietic anemia and CP(A), Retic count and blood film were done, direct and indirect Coomb’s Test to be conducted at NBC and he was continued to monitor. Neurosurgeon considered the anaemia was due to the intra-cranial space replaced by haemorrhage as the brain wasn’t fully developed at that time, ultrasound head was repeated and report as moderate hydrocephalus and no hemorrhage. He was discharged on 8th post- op day of operation, and his OFC became 41cm on discharge.

For follow-up process, the hematologist told the parents to come back with CP (A), retic count and blood film results after 2 weeks. Follow up visits with the respective paediatrician and neurosurgeon was also scheduled after 2 weeks. The parents went back to their native hometown and had not shown up for follow-up scheduled process and the child is presumably healthy.

At YCH, he was treated with IV Meropenem for 10 days and then was discharged (15.4.2025-22.5.2025). During his hospital stay at Thaton Private hospital (from 30.4.2025 to 7.5.2025), he was given IV CS1, Curam, Genta, Vancomycin, Cefepime. At DMH, he was treated with Ceftriaxone, Meropenem, Vancomycin for antibiotics. He was consulted with Haematologist and treated with iron supplement with folic acid (after infection was controlled), CPA, retic count with blood film monthly and follow up 1 month with results. He was also consulted with physiotherapist during hospital stay. On 5^th Day of admission, skin redness was seen on the chest (in the shunt tract area) and change antibiotics. Peripherally inserted central catheter (PICC) was inserted at right cubital fossa on 8^th day of admission due to difficult venous assess. Suspected shunt infection led to a shunt revision procedure on day 10, where distal catheter blockage was found. He was discharged on POD 11 of Shunt revision for right VP Shunt for congenital hydrocephalus underlying Congenital Dyserythropoietic Dysgenesis. Follow up was advised after one month if no complication arose.

Discussion

Declaration

Ethics Approval and Consent to Participate: Not applicable for a single case report.

Consent for Publication: Written informed consent was obtained from the patient’s parents for publication and use of research purpose of this case report. The identity of the patient has been protected.

Acknowledgements: We fully appreciate the patient’s family for their cooperation and consent.

References

1. Miroslava Koleva, O. D. (2023, August 23). Hydrocephalus. Retrieved from National Library of Medicine: https://www.ncbi.nlm.nih.gov/books/NBK560875/
2. NHS. (2023, February 6). Hydrocephalus. Retrieved from NHS: https://www.nhs.uk/conditions/hydrocephalus/#:~:text=Hydrocephalus%20present%20from%20birth,epilepsy
3. Melese Shenkut Abebe, G. S. (2022). Congenital Hydrocephalus and Associated Risk Factors: An Institution-Based Case–Control Study, Dessie Town, North East Ethiopia. Pediatric Health, Medicine and Therapeutics, 175-182.
4. Mayo Clinic Staff. (2023, September 15). Hydrocephalus. Retrieved from Mayo Clinic: https://www.mayoclinic.org/diseases-conditions/hydrocephalus/symptoms-causes/syc-20373604#:~:text=Overview,the%20brain%20and%20spinal%20column.
5. Medline Plus. (2025, March 4). Congenital Dyserythropoietic anemia. Retrieved from Medline Plus: https://medlineplus.gov/genetics/condition/congenital-dyserythropoietic-anemia/
6. Noemi B A Roy, C. B. (2019). The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I. PubMed Central, 436-449.
7. Korubo, K. I. (2014). Congenital Dyserythropoietic Anaemia: Case Report of a Rare Blood Disorder in a Nigerian Child. American Society of Hematology, 4879.

Author Information

Nyein Chan Thaw and Phoo Pwint May

1. SAS ( Pediatrics), M.Med.Sc (Pediatrics)
2. (M.B.,B.S, MBA), Research & Development Manager, Dagon Medicare Hospital

Annex