DE LA SALLE UNIVERSITY MEDICAL CENTER

Department of Pediatrics
Interesting Case Conference

Case Protocol

“Sweet Child of Mine: A Case of Maple Syrup Urine Disease”

Danica R. Duguran, MD
Presenter

I. General Data
Patient D.D., 9 day old, female, Filipino, Catholic, born on May 5, 2020, in Alfonso, Cavite, currently lives
in General Emilio Aguinaldo, Cavite, admitted for the first time last May 14, 2020 at 5:34 PM.

II. Chief Complaint

Seizure

III. Prenatal History

Patient’s mother had her first check up at the Rural Health Unit, where she confirmed her pregnancy.
Succeeding 3 check ups were done at a private lying in clinic. Routine laboratory procedures such as CBC, Hepa B,
urinalysis, and ultrasound revealed unremarkable results. No maternal illnesses noted nor intake of antibiotics or
any medications.

IV. Perinatal History

Patient’s mother had trial of labor at a private lying in clinic when she started to have contractions and
spotting. However, on the 5th hour of labor, dilatation was arrested at 8 cm, hence transferred to a hospital for
cesarian section.

V. Postnatal History
Patient was born term to a 25 year old G1P1(1001) via cesarean section secondary to dystocia with the
following anthropometrics: birth weight of 2.5kg, birth length of 46cm, head circumference of 31cm, chest
circumference of 30cm, and abdominal circumference 29cm. No post delivery complicatons noted and newborn
screening was done after the 24th hour of life. Patient was successfully breastfed and was discharged from the
hospital after 2 days.

VI. History of Present Illness

Seven days prior to consult (2nd day of life), patient was discharged from the hospital with one episode of
low-grade fever of 37.8°C, but with good suck, cry, and activity. No home medication was given.
Three days prior to consult (6th day of life), patient was noted to have poor cry and poor suck, with
occasional stiffening of extremities, lasting for 3 seconds, about 10 times a day. Grandmother also noted
yellowish discharge on the patient’s right eye. No other associated symptoms such as fever, cough, colds, or
vomiting. Still, no medication given and no consult was done.
One day prior to consult (8th day of life), still with symptoms, mother was advised by Newborn Screening
Center (NSC) to bring patient to the hospital for admission due to symptoms and abnormal Newborn Screening
(NBS) result.
VII. Review of Systems
General: (+) poor suck, (+) poor cry, (+) fair activity, (+) fever
Integument: (-) pallor, (-) cyanosis, (-) jaundice, (-) rashes, (-) dryness
Hematopoeitic: (-) anemia, (-) easy bruising/bleeding
HEENT: (+) eye discharge, (-) erythema, (-) swollen nodes, (-) lumps
Mouth and Throat: (-) ulcer, (-) mouth dryness, (-) circumoral cyanosis
Respiratory tract: (-) colds, (-) cough, (-) shortness of breath
Cardiovascular:, (-) color changes when feeding, (-) excessive sweating
Gastrointestinal: (-) vomiting, (-) diarrhea, (-) constipation
Urinary tract: (-) frequency, (+) sweet smelling urine
Muskuloskeletal: (-) limitation of motion, (-) fractures
Endocrine: (-) polyphagia, (-) polydipsia, (-) polyuria
Neuro: (+) seizure, (-) loss of consciousness

VIII. Immunization History

Patient was given BCG and Hepatitis B vaccine at birth.

IX. Family History

Patient is a Filipino and no consanguineous relationship reported in the family. Maternal grandfather has
hypertension. Paternal grandmother has asthma and her grandfather died of stroke at the age of 52. Paternal
uncle was described as mentally challenged, who was never clinically diagnosed due to financial constraints. No
other diseases were reported such as diabetes mellitus, tuberculosis, and cancer. No inherited diseases, such as
maple syrup urine disease, as well.
X. Physical Examination
A. General
Patient is comfortable, not in distress, has poor suck and cry, with fair activity. Resting position is
normal at flexion. Urine was noted to have a burnt sugar, sweet odor.

B. Anthropometrics and Vital Signs

Weight 3.0kg Z score: 0
Length 46cm Z score: 0
Head Circumference 33cm
Abdominal Circumference 31cm

Temperature 36.9C
Heart Rate 125 bpm
Respiratory Rate 34 cpm
O2 Saturation 98%

C. Skin
§ (-) pallor, (-) cyanosis, (-) jaundice
§ (-) rashes, (-) hypo/hyperpigmentation, (-) hematoma
§ Warm to touch
§ Good skin turgor

D. Head, Eyes, Ears, Nose, and Throat

§ Soft, flat fontanelles
§ (-) cephalic molding
§ (+) yellowish eye discharge, right eye
§ (-) nasal flaring
§ Moist lips and oral mucosa
§ (-) cleft lip/palate

E. Chest and Lungs

§ (-) skeletal deformities
§ Symmetrical chest expansion
§ (-) intercostal/subcostal retractions, (-) use of accesory muscles
§ Clear breath sounds

F. Heart
§ Adynamic precordium
§ (-) heave, (-) thrill
§ Normal heart rate with regular rhythm
§ (-) murmur

G. Abdomen
§ Flat, no deformities
§ Normoactive bowel sounds
§ Soft, non distended abdomen
§ (-) organomegaly
 H. Genitalia, Rectum, and Anus
§ Grossly female genitalia
§ (-) vaginal discharge
§ Patent anus
§ (-) fistula

I. Extremities
§ (-) deformities
§ (-) syndactyly, (-) polydactyly
§ (-) edema, (-) sclerema
§ Full and equal peripheral pulses

J. Neurologic
§ Pupils are 2-3mm EBRTL
§ (-) facial asymmetry
§ (+) poor suck, (+) poor cry, (+) fair activity
§ (+) Sucking reflex, (+) Grasp reflex, (+) Babinski reflex
§ (-) meningeal signs

XI. SALIENT FEATURES

• 9 day old, female
• Filipino
• Seizure
• Poor suck and cry on 6th day of life
• Burnt sugar, sweet urine odor
• Poor activity of physical examination
• Elevated leucine level on NBS

This is a case of a 9-day old, female, Filipino, who presented with seizure, accompanied with by poor
suck and cry, which started on the 6th day of life, with fair activity and burnt sugar, sweet-smelling urine upon
physical examination done during admission. Additionally, elevated leucine level was detected on her NBS.
XII. DIFFERENTIAL DIAGNOSIS

Neonatal Seizure

Subtle Clonic Tonic Myoclonic

<24 hours 1-3 days >3 days

Severe birth Milder birth Metabolic

trauma Infection Drug withdrawal
trauma disturbance
Perinatal Subarachnoid
asphyxia/HIE hemorrhage Hypoglycemia Other metabolic
Intracranial
Nonbacterial disorders
Acute metabolic Hypocalcemia
hemorrhage abnormalities
Acute metabolic Hyponatremia Maple syrup
abnormalities
Neonatal seizure Meningitis
syndromes Hypernatremia urine disease
Congenital
malformations Sepsis
Drug
withdrawal
Drug toxicity

Seizures are the most important indicator of significant neurologic dysfunction in the neonatal period.
They are common in the neonates because they have immature brain that renders it more excitable due to
decreased seizure threshold. In neonatal seizures, the most widely used scheme is by Volpe, which is based on
clinical presentation: subtle, clonic, tonic, spasms, and myoclonic. Patient’s seizure, as described, can be classified
as subtle seizure, which is the most common. Subtle seizures imitate normal behaviors and reactions, which is
why they are frequently overlooked.

Aside from clinical presentation, seizures may be further classified according to its time of onset. The
timing of the seizure with respect to postnatal age can give clues to the etiology. In the case of the patient, she
manifested seizure on the 6th day of life. During this period, possible seizure causes can be narrowed down into
infection, metabolic disturbance, and drug withdrawal. Among the three, drug withdrawal may be instantly ruled
out because no maternal drug use, like narcotics and barbiturates, were elicited from the history.

Neonatal infections, both nonbacterial and bacterial, account for 5-10% of the cases of neonatal
seizures. Nonbacterial infection, such as toxoplasmosis, herpes simplex, cytomegalovirus, and rubella, can be
ruled out because no maternal illnesses were elicited from our history. Meningitis, on the other hand, can be
ruled out as well basing from our physical examination. Due to history of low-grade fever, poor cry, poor suck,
and fair activity, an early onset of neonatal sepsis may be considered.

One of the most salient feature of the patient, aside from having seizures, is the abnormal newborn
screening, and so metabolic causes of seizure are considered. Acute metabolic disturbances, such as
hypoglycemia, hypocalcemia, hypo- and hypernatremia, are ruled out later on through initial diagnostics. With
an elevated leucine level on the patient’s initial NBS result, along with the distinct sweet smell of her urine,
patient’s seizure was undoubtedly attributed to a metabolic disease, specifically maple syrup urine disease.
XIII. ADMITTING IMPRESSION
• Maple Syrup Urine Disease
• Ophthalmia Neonatorum, OD
• To consider Neonatal Sepsis, Early Onset

XIV. Diagnostics
Complete Blood Count with Platelet Count
HGB HCT WBC Seg Lym Eos Mono Platelet
5/14/20 160 49 13.1 54 40 6 416
5/19/20 118 33 6.4 44 50 1 5 374
Blood Chemistry and Immunology
Na K Ca Cl Mg BUN Crea CRP Type
5/14/20 139 5.5 2.62 109 1.06 3.3 48.7 <5 O+
5/16/20 135 6.0
5/19/20 139 5.0 2.47 109 1.8 34.9
5/27/20 135 4.6

Blood Ketones (mmol/L) Leucine (umol/L)

5/14/20 0.3 2917.78
5/16/20 1604.04
5/19/20 0.1 0.3
5/20/20 0.4 1098.10
5/21/20 0.2 0.2
5/22/20 0.2 0.5
5/23/20 0.1 0.4
5/24/20 0.4 0.2 942.86
5/25/20 0.3 0.3 845.35
5/26/20 0.2 0.4
5/27/20 0.2
5/28/20 0.3 417
5/29/20 0.2
5/30/20 0.2
5/31/20 0.2 193
6/1/20 0.2
6/2/20 0.3 Pending
6/3/20 0.3
6/4/20 0.3
6/5/20 0.3

PT (5/19/20): 14.7, 12.5, 1.21, 77%

PTT (5/19/20): 36.5, 31.1, 1.18
Blood CS (5/14/20): Staphylococcus epidermidis growth in 15.84 hrs
Susceptible to all antibiotics
Urine ketone (5/17/20): negative
EEG (5/15/20): occasional focal epileptiform discharges at the left parietal area
Cranial UTZ (5/22/20): normal for age