University of the Philippines-Philippine General Hospital

Department of Pediatrics

Emeritus Rounds Case Report

Block A (Half block): Achondo, Carlos | Abero, Chlo Anne | Agakhan, Sittie Asha | Co, Hannah
Louis | Acosta, Sharysse | Agacer, Xyrza | Alberto, Isabelle | Abdulmalik, Hilal | Vista, Fatima

General Data:

This is a case of MYV, 1 month old, baby boy, Roman Catholic, from Pasig, who came in due to
fever.

History of present illness:

Patient is born to a 31-year-old G8P4 (4034) mother, delivered on full-term, 40 weeks AOG, by
LMP, via SVD at their home assisted by a midwife. Upon delivery, noted to have good cry, activity,
no meconium aspiration, no cord coil, no PROM with a birthweight of 3.4 kgs. However, noticed
to have lumbosacral ulcerating mass with serosanguinous, non-foul-smelling discharge. They
sought consult to different hospitals where they were denied due to lack of vacancies until they
visited National Children’s Hospital where the child was assessed as Myelomeningocele. On
admission, he developed jaundice on his 5 th day of life, where phototherapy was given. The
mother verbalized that no neurology consult was done however cranial CT-scan was done which
revealed Chiari II malformation. They were eventually discharged without neuro consult and was
advised for a teleconsult.

In the interim, good activity and suck. No seizures, changes in bowel and bladder patterns.

Until 2 days PTA, the child developed fever (Tmax 38.7), no medications were given. They first
went to NCH but was advised to wait for the teleconsult. This led to for the parents to look for
other institution, hence their consult in our ER.

Review of systems:

General No weight loss, no loss of appetite, no

changes in activity
Dermatologic Unremarkable
HEENNT No cough, colds, no ear pain, no aural/nasal
discharges
Respiratory No dyspnea, no cyanosis
Cardiovascular Unremarkable
GI (+) diarrhea
Neuro No seizures, no loss of consciousness
Genitourinary No changes in urine color, or bladder pattern
 Endocrine No weight gain
Musculoskeletal Weak LE bilateral

Ancillary History:

Past Medical Hx: (-) surgeries, (+) admitted in NCH for almost a month as mentioned

FMHx: (-) DM, HTN, Cancer, Seizure disorder, (+) G6PD, sibling

Birth and Maternal History:

Born to a 31-year old G8P4 (4034) mother, delivered on full-term, 40 weeks AOG, by LMP, via
SVD at their home assisted by a midwife.

Mother knew she was pregnant to the child at 1 month gestation.

Claimed to have total of 5 PNCU at their local health center.

Prescribed with vitamins and minerals for pregnancy such as Iron and Folic Acid but did not
comply saying that she is accustomed not to take those medications in all her pregnancies.

Claimed to have no maternal illnesses/infections throughout pregnancy.

NBS was done twice. First result showed normal however advised to repeat the test since the
child was alleged sick during the NBS however on the second NBS, the child was positive for
G6PD. Advised for confirmatory exams.

Newborn hearing test done and showed normal results.

Immunization history:

1 dose of BCG, Hep B each

Nutritional history: Exclusively breastfed

Personal social history: lives in 6 member household - 26/father -lineman, 31/mother -

unemployed. The siblings are 11/F, 7/M, 4/M siblings. No one ongoing HRZE treatment for PTB.

PHYSICAL EXAM:

Awake, good cry and activity, not in cardiopulmonary distress

BP85/50 HR 152 RR 35 Temp 38.8 O2Sat 100

Weight: 3.4 kgs; z-score: -2;

Length: 56 cm; z-score: 0:

Head circumference: 39 cm; z-score:2

Anicteric sclerae, pink palpebral conjunctivae, no cervical lymphadenopathies, no conjunctivitis,
non-erythematous tonsils, non-sunken eyeballs, moist lips, moist oral mucosa

Equal chest expansion, no retractions, clear breath sounds

Adynamic precordium, distinct heart sounds, no murmurs

Soft abdomen, non-tender, no organomegaly,

Full and equal pulses, CRT less than 2 seconds, no jaundice, no edema

(+) 9x9x1.5 erythematous mass LSM, minimal white to yellow discharge

No sacral dimpling, tufts of hair

Neuro PE:

Mental Status: Awake, alert with spontaneous activity

Cranial nerves:

XII- intact, patent nostrils

II- Pupils 2/2mm EBRTL

III, IV, VI- intact extraocular muscles by doll’s eyes

V- Brisk corneals, intact sensory component on three division by touching, able to contract suck
breast during feeding

VII- can perform varieties of facial expressions like crying etc

VIII- looks to mother when ever being called on the same direction

IX, X- no asymmetry in palatal movement/elevation, good gutturals,

XI- intact and was able to move neck and head from side to side

XII- intact, no deviation, no fasciculations

Motor:

Normotonic UE, hypotonic B LE Spontaneous movement of B UE

No movement of B LE

Sensory: Withdraws to pain

Reflexes: DTRs ++
(+) Babinski

(-) Clonus

No nystagmus
Supple neck

Salient Features:

Pertinent Positives Pertinent Negatives

- 1 month old child - Bowel and bladder incontinence
- (+) lumbosacral mass presented upon - Clubfeet
delivery - Sacral dimpling
- (+) non-adherence to pregnancy - Tufts of hair
supplementation e.g iron, folic acid
- (+) Bilateral LE weakness
- (+) associated Chiari II malformations

Differential Diagnosis:

Differential Points of Ruling-In Points of Ruling-out

Meningocele
Congenital dermal sinus
Myelomeningocele
(+) protruding mass along the No neurologic deficits
vertebra
(+) mass covered with a sac
(+) associated with folate
deficiency/ non-adherence
prenatally
(+) mostly lumbar or Usually presents with a
lumbosacral mass visible ostium, dimply,
possibly with
hyperpigmentation of the skin
or hypertrichosis
(+) protruding mass along the
vertebra
(+) mass covered with a sac
containing both meninges
and neural elements
(+) associated with folate
deficiency/ non-adherence
prenatally
(+) neurologic deficit
Impression:
Infected Lumbosacral Myelomeningocele
Chiari Malformation II
PROBLEM LIST:
S/O
- No movement of Bilateral
lower extremities
- (+) 9x9x1.5 erythematous
lumbosacral
- Bedside CUTZ: (+) dilated
ventricles -> hydrocephalus
- Cranial CT scan showing-
Chiari II malformation with
obstructive hydrocephalus,
likely from aqueductal
stenosis
- (+) whitish discharge oozing
from the lumbosacral mass
- (+) fever a day prior to
admission, Tmax 38.7
- CBC
11/13:
123/37/16.2(50/34/14/1/1)/630
- 11/13 CRP <6 PCT 0.27
- Blood CS result showed
growth of Staph.
Haemolyticus after 9 hours of
incubation
- Culture and sensitivity
showed methicillin resistance
- Persistently febrile upon
admission, Tmax 38.9
- Urinalysis
11/13 straw, sl hazy, nit neg,
leuc +3, RBC 2, WBC 49 EC
A P
Lumbosacral - S/P repair of lumbar
Myelomeningocele; myelomeningocoele,
Chiari II malformation
bilateral latissimus
dorsi advancement
flap
Methicillin resistant- - Vancomycin (60)
Staphylococcus 500mg/vial plus 10
haemolyticus,
probably from
ml sterile water to
make 50mg/ml stock
infected leaking solution, give 50 mg
myelomeningocele IV or 1 ml (50mg/ml
stock solution) plus
10 ml NSS to make
5mg/ml solution.
Infuse over 1 hour
every 6 hours.
- Meropenem (120)
140mg IV q8
- Amikacin (15) 50mg
IV OD
Fungal UTI - Fluconazole (12)
40mg IV as loading
dose, then maintain
at (6) 20mg IV once
a day, once
available, please
 0 B 28 MT 1 Yeast 5, yeast shift to oral
with hyphal elements rare Fluconazole (6)
20mg/pptab, 1
pptab once a day
- (+) Diarrhea 4x in the morning Hyponatremia from - Replace GI losses
nd
of 2 HD GI losses volume per volume
- 11/13: BUN 6.1 Crea 31 Na with PLR over 2
117 K 5.3 Cl 89 Ca 2.58 hours

- (+) Diaper rash Diaper dermatitis - Zinc Oxide, apply on

perineal area after
every diaper change

DISCUSSION:

• Neural tube defects (NTDs) are congenital malformations of the central nervous
system (CNS), spine, and cranium.
• NTDs are caused by incomplete closure of the neural tube during neurulation, which
takes place during the 3rd and 4th week after conception.
o Cranial defects: incomplete closure of anterior neuropores → cranial cleft
formation (mostly open defects) with involvement of the skull and brain
o Spinal defects: incomplete closure of posterior neuropores → bone defects
of the vertebral arches (mostly lower lumbar or sacral region ) →
possible herniation of spinal neural tissue and meninges
• NTDs can be classified according to affected structure and degree to which the defect is
covered by tissue.
o Open NTDs: Meninges and/or neural tissue are uncovered and, therefore,
freely exposed to the surrounding (e.g., amniotic fluid).
o Closed NTDs: Defect is covered by skin and/or connective tissue.
Etiology
Most NTDs are isolated malformations with multifactorial etiology.
• Maternal risk factors
o Folate deficiency during pregnancy due to:
▪ Insufficient folate supplementation (see “Prevention” below)
▪ Drugs that interfere with folate metabolism
▪ Methotrexate
▪ Anticonvulsants: valproate, carbamazepine
▪ Sulfonamides, trimethoprim
o Pregestational diabetes mellitus
o Obesity
o Fever/hyperthermia during the first trimester
• Fetal causes
 o Chromosomal aberrations (e.g., trisomy 13, trisomy 18) and other genetic
factors
o Amniotic band syndrome
o Chiari II malformation

Diagnostics

Prenatal period

• Screening test (16–18 weeks' gestation): ↑ AFP in maternal serum (MSAFP)

o MSAFP is only elevated in open NTDs.
o MSAFP is not elevated in spina bifida occulta.
o Usually part of the quad screen test
• Ultrasonography (18–20 week's gestation)
o Characteristic findings depend on the specific defect
▪ Findings in anencephaly
▪ Cranial vault and brain tissue are absent.
▪ Residual,
disorganized cerebellar and/or brainstem tissue may be
present.
▪ Bulging eyes and underdeveloped forehead
▪ Associated with polyhydramnios
o Screen for malformations of other structures (e.g., abdominal wall defects)
o Rule out other causes of elevated MSAFP (e.g., miscalculated gestational
age, multiple gestations, fetal death)
• Amniocentesis: ↑ AFP and ↑ AChE in amniotic fluid (increase in open NTDs only)
o Used as confirmation test when MSAFP is elevated but ultrasound findings
are inconclusive
o When both AFP and AChE are elevated, an open NTD is very likely.
o Amniocentesis may also be used to test for chromosomal
abnormalities associated with NTDs (e.g., trisomy 13, trisomy 18)
Postnatal period
• Completephysical examination
o Lumbar skin dimple or tuft of hair (often seen in spina bifida occulta)
o Associated malformations (e.g., abdominal wall defects)
o Extent of neurological deficits (e.g., muscle weakness, spasticity, abnormal
reflexes)
o Signs of elevated intracranial pressure (e.g., bulging fontanel)
• Imaging
o Cranial ultrasonography: to monitor hydrocephalus
o CT scans and/or MRI
▪ Monitor hydrocephalus
 ▪ Evaluate bone defects and/or neural tissue lesion (imaging is
especially important to plan surgery)

Treatment:
• Postnatal
o General management
▪ Cover defect with sterile, wet compresses (avoid pressure on
defect)
▪ Prophylactic administration of broad-spectrum antibiotics
o Surgical treatment
▪ Open NTDs: Surgery should be performed within 72 hours after
delivery (to reduce the risk of CNS infection).
▪ Closed NTDs: monitoring and possibly elective surgery
▪ Hydrocephalus: consider placement of a ventriculoperitoneal
shunt
o Long-term care
▪ Complex treatment
▪ May involve physical therapy, rehabilitation programs, and specific
treatment of neurological disorders (e.g., neurogenic bladder
dysfunction).

PROGNOSIS:

For a child who is born with a myelomeningocele and who is treated aggressively, the
mortality rate is 10-15%, and most deaths occur before age 4 yr, although life-threatening
complications occur at all ages. At least 70% of survivors have normal intelligence, but learning
problems and seizure disorders are more common than in the general population. Previous
episodes of meningitis or ventriculitis adversely affect intellectual and cognitive function. Because
myelomeningocele is a chronic disabling condition, periodic and consistent multidisciplinary
follow-up is required for life. Renal dysfunction is one of the most important determinants of
mortality.
Functional ambulation is the wish of each child and parent and may be possible,
depending on the level of the lesion and on intact function of the iliopsoas muscles. Almost every
child with a sacral or lumbosacral lesion obtains functional ambulation; approximately half the
children with higher defects ambulate with the use of braces, other orthotic devices, and canes.
Ambulation is often more difficult as adolescence approaches and body mass increases.
Deterioration of ambulatory function, particularly during earlier years, should prompt referral for
evaluation of tethered spinal cord and other neurosurgical issues.
Although incontinence of fecal matter is common and is socially unacceptable during the
school years, it does not pose the same organ damaging risks as urinary dysfunction, but
occasionally fecal impaction and/or megacolon develop. Many children can be bowel-trained with
a regimen of timed enemas or suppositories that allows evacuation at a predetermined time once
or twice a day.