Brandau Neonatal Case

Question 1

Intrauterine Growth Restriction (IUGR) - causes

Answer 1

Less than 5th percentile of growth for the gestational age

Common Causes:
Placental abnormalities	
Maternal hypertension
Diabetes
Smoking
Alcohol, especially microcephaly
Chromosomal anomalies
Congenital malformations

Question 2

Hypotonia in an infant- description

Answer 2

Both arms fall back (instead of being held in flexion), and the baby’s upper body appears to drape over the examiner’s hand.

When the infant is held in suspension, the infant appears to be “slipping” out of the examiner’s hands. The head drops much lower than would be expected.

Question 3

typical baby with arthrogryposis

Answer 3

sometimes the face is long and the jaw large

wrist often bent up or out stiffly

hips often bent upward or outward stiffly; may be dislocated

contractures with webbing of skin behind joints (at knees, hips, elbows, or shoulders)

knees bent or straight, in a stiff position

club foot common

sppine often curved but trunk strength usually normal

hands and fingers often very weak

often arms are stiff at elbows and weak

shoulders sometimes turned in

mind completely normal

Question 4

Differential Diagnosis- poor feeding/ hypotonia

Answer 4

Sepsis

• Bacterial
• Viral

Chromosomal abnormalities

• PWS
• Turner
• Trisomy 21

Perinatal trauma
- Hypoxic-ischemic brain injury
= Intracranial bleed
Metabolic disease
Neurological disorders
Musculoskeletal disorders

Question 5

TORCH

Answer 5

toxoplasmosis
Other (hep B)
Rubella (german measles)
CMV
HSV

Question 6

TORCH common manifestations

Answer 6

SGA infants

CNS changes: hydrocephalus, microcephaly, periventricular calcification

Chorioretinitis

Pneumonitis

Petechiae

Hepatomegaly with jaundice

splenomegaly

Bony changes resembling osteomyelitis

Question 7

Hydrops, placenta and amniotic fluid

Answer 7

Hydrops reported in most TORCH but may be transient

Placentomegaly is usually associated with intrauterine infection, but small placentae have also been reported

Hydramnios and oligohydramnios have been reported with similar frequency

Question 8

Three Presentations of Herpes Simplex Infection

Answer 8

SEM disease (Localized to skin, eyes, and mucosal)
Vesicular lesions on an erythematous base

CNS disease
Seizure, lethargy, irritability, tremor, poor feeding, temperature
instability, full anterior fontanelle

Disseminated disease
Multiple organ involvement (CNS, skin, eye, mouth, lung, liver,
adrenal glands)
May appear septic – fever/hypothermia, apnea, irritability, lethargy,
respiratory distress
Hepatitis, ascites, direct hyperbilirubinemia, neutropenia,
disseminated intravascular coagulation, pneumonia, hemorrhagic
pneumonitis, necrotizing enterocolitis, meningoencephalitis, skin
vesicles

Question 9

3 features of Rubella syndrome

Answer 9

microcephaly
PDA
cataracts

Question 10

Blueberry muffin rash

Answer 10

CMV or rubella congenital infections

Neuroblastoma

Question 11

CMV

Answer 11

the most common congenital infection

10% of infected neonates demonstrate clinical manifestations that potentially could be identified by prenatal sonography

Ventriculomegaly, FGGR, intracranial calcifications and oligohydramnios are the most frequently reported findings

Question 12

Congenital Muscular Dystrophies

Answer 12

Genetically determined set of conditions presenting as muscular dystrophy at birth
Multiple genetic mutations involving various genes have been associated with CMD
CK levels are usually elevated

Muscle biopsy characteristically abnormal with extensive fibrosis, degeneration and regeneration of muscle fibers with proliferation of fatty and connective tissue

Question 13

CMD can be Further Classified by Structural CNS abnormalities

Answer 13

Absence of CNS findings by MRI is found in “Classical” CMD
Classic form typically displays laminin α-2 chain mutations and further characterized as merosin positive or negative forms
Genetics in autosomal recessive
Syndromic forms are characterized by CNS lesions