Neonatal Case (brandau)

Question 1

A term male infant is admitted to the NICU after difficulty feeding and respiratory distress developed at 5 hours of age.

A third trimester ultrasound showed oligohydramnios and intra-uterine growth retardation.

Less than 5th percentile of growth for the gestational age

After delivery the infant appeared somewhat asymmetric (mishapen) with intrauterine growth restriction. Birthweight was 2,215 grams and APGARS of 9 and 9 at 1 and 5 minutes (Good). Generalized hypotonia*** was noted with poor suck and excessive oral secretions (neuro problem). Moro reflex was normal. Arthrogryposis of the wrists and elbows was noted. No tongue fasiculations were seen. The remainder of the exam was normal.

High –> LDH, Aldolase, AST, ALT, CK (involving the muscular system)

Answer 1

Congenital muscular dystrophy

A muscle biopsy was performed confirming the suspected diagnosis of congenital muscular dystrophy

Histochemical staining showed deficiency of laminin alpha -2
The mother’s 2 other children were healthy but had a different father

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

Question 2

what are some common causes of intrauterine growth restriction

(less than 5th percentile of growth for the gestational age)

Answer 2

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

Question 3

oligohydramnios….. what could this indicate

Answer 3

renal system is involved - possibly potter sequence (flattened face)

Question 4

Arthrogryposis

Answer 4

fixed contracture of a joint

Question 5

what are the TORCH infections

Answer 5

Toxoplasmosis
Other - hep B
Rubella - German measles
CMV 
Herpes Simplex 

Each disease is teratogenic, crosses the placenta, may adversely affect the developing fetus

Question 6

what are the common manifestations of TORCH infections

Answer 6

hydrops - can be transient

CNS - hydrocephalus, microcephaly, perventricular calcifications

Chorioretinitis (toxo)

Pneumonitis

SGA infants

petechiae

hepatomegaly with jaundice

splenomegaly

bony changes resembling osteomyelitis

Question 7

three presentations of herpes simplex infection

Answer 7

SEM - localized to skin**, eyes and mucosal

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

Disseminated - multiple organ involvement. liver. may appear septic (pneumonia, DIC*** fever, hypothermia, apnea, irritability, resp distress)

Hepatitis, ascites, direct hyperbilirubinemia, neutropenia,
disseminated intravascular coagulation, pneumonia, hemorrhagic pneumonitis, necrotizing enterocolitis, meningoencephalitis, skin
vesicles

Question 8

congenital rubella syndrome

Answer 8

microcephaly
PDA
cataracts
blueberry muffin rash

Question 9

CMV in infant

Answer 9

blueberry muffin rash

MC of congenital infections

ventriculomegaly
Fetal growth retardation
intracranial calcifications
oligohydramnios

Question 10

what is absent or shown in the muscle biopsy of kids with congenital muscular dystrophy

Answer 10

laminin alpha 2

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

Question 11

what is specific about the classic form of congenital muscular dystrophy

Answer 11

absence of CNS findings by MRI

typically displays laminin α-2 chain mutations and further characterized as merosin positive or negative forms

autosomal recessive

whereas syndromic are characterized by CNS lesions