CASE REPORT

Niger J Paed 2013; 40 (4): 426 – 427

Udo JJ

Phocomelia in an HIV infected

baby: Case report

Ochigbo SO

Ikpeme OE

NlemadimTE

DOI:http://dx.doi.org/10.4314/njp.v40i4,16

Accepted: 25th May 2013

up. Her medical record did not show any record of CD4

count prior to commencement of drugs at the hospital.

The medical history did not indicate any rash during the

first trimester, drugs or herbal ingestion apart from rou-

tine hematinics. There was no history of alcohol inges-

tion or smoking during pregnancy. Her highest level of

education was JSS 2 and she sells cooked food.

Ochigbo SO (

)

Udo JJ, Ikpeme OE, Nlemadim TE

Department of Paediatrics,

University of Calabar Teaching Hospital,

Calabar, Nigeria.

Email: ochigbosunny@yahoo.co.uk

The father, a 40-year-old army rating with SS3 as the

highest level of education, was found to be seroreactive

to HIV five months after wife’s diagnosis.

The baby girl weighed 2.2kg and had a number of con-

genital abnormalities: the right upper limb was ampu-

tated at the proximal arm; there was a rudimentary left

Introduction

Phocomelia refers to a birth defect in which the hands

and feet are attached to abbreviated arms and legs. The

term comes from phoco (meaning 'seal') and melia

arm with three digits and no forearm. In addition there

were right mandibular hypoplasia and asymmetry of the

jaw and mild pectus carinatum. Her length and Occipito

frontal circumference (OFC) were 47cm and 33cm re-

spectively. The lower limbs were normal and no other

abnormalities were detected. The baby was seropositive

to HIV using ELISA and DNA PCR. Other viral studies

like rubella cytomegalovirus serology could not be done

because of lack of necessary facilities to conduct such

investigations. The working diagnosis was HIV em-

bryopathy with gross skeletal abnormalities in a preterm

(

meaning 'limb'), to indicate a developmental abnormal-

ity in which the limb is like a seal's flipper. There has

been an explosion of knowledge about child develop-

ment in past decade or so, and it is hard to remember

that it was only about 50 years ago that the discovery

was made that the fetus is vulnerable to exposures. The

phocomelia epidemic resulting from use of thalidomide

by pregnant women was an early but dramatic example

of the ability of chemicals to traverse the placenta and

damage the fetus. More than one system can be suscepti-

ble and different pathologies may occur depending upon

the dose and timing of exposure.

low birth weight baby. The baby's CD4 count was

200cc/mm , and her E/U/Cr, and haemogram were

essentially normal. Baby was managed at the Special

Care Baby Unit (SCBU), was discharged after two

weeks and followed up at the pediatric outpatient clinic.

The social works department of the University of

Calabar Teaching hospital was also involved in the

management of this baby.

Case Report

Baby EEU was a 4-hour old female baby delivered via

spontaneous vertex delivery to a booked 35 year old

Gravida five para five (two males and three females)

woman at a gestational age (GA) of 40weeks at the

Un_t_hiversity of Calabar Teaching Hospital (UCTH) on

Fig 1 and 2 shows the limb (phocomelia) and jaw abnormali-

ties (right mandibular hypoplasia and micrognathia)

0 October 2012. The Apgar scores at birth were six

Fig 1

and seven at one and five minutes respectively. The

baby showed fair activity at birth and needed minimal

resuscitation. Pregnancy was booked at UCTH at 17

weeks gestational age but she defaulted and was not

seen again until 30 weeks of gestation. The mother had

the following laboratory profile: blood group O Rhesus

D positive, haemoglobin genotype AA, HIV seroposi-

tive. She however refused antiretroviral drugs (ARV)

treatment. At 30weeks gestation she had a febrile illness

and severe diarrhoea which

necessitated hospitalization for five days. Thereafter she

accepted ARVs (no Efavirenz) but defaulted to follow

Out of the 839,521 births in the five geographic regions,

10,844 birth defects were recorded with a prevalence of

Fig 2

29 per 10,000 births.

In Uganda , of 754 new born babies delivered in Mulago

Hospital, Kampala, 33 babies (4.4%) were diagnosed

with external birth defects. Limb defects accounted for

5.7% while cleft lip and palate made up 14.2% of all

defects. Also common were central nervous system

defects (8.5%), omphalocele and spina bifida, 5.8%

each, other anomalies, together, constituted 20.0%.

In Ile Ife, Nigeria, a total of 624 neonates were exam-

ined, 43 (6.9%) of whom had external birth defects.

Musculoskeletal malformations observed in 21 (3.5%)

newb₇orns constituted the largest number of birth de-

fects .

Many investigators have described HIV embryopathy as

a condition characterized by craniofacial defects, includ-

ing microcephaly, hypertelorism, box-like head, and

saddle nose, long palpebral fissures with blue sclera, a

Discussion

Birth defects are structural, behavioral, functional and/or

metabolic disorders that a baby may have at birth. The

known factors are grouped into genetic/chromosomal

disorders accounting for 15% of birth defects, while

environmental factors and twining accounted for 10%

triangular philtrum, and patulous lips . However, many

investigators have since questioned the significance of

these observations. Such researchers indicate that there

is lack of evidence for characteristic craniofacial

and 0.5-1% of the birth defects respectively .

malformations in infants who acquired HIV infection

from their mother before, during, or shortly after birth

Approximately 2-3% of births are associated with major

congenital defects . Although the cause of birth defects

(

i.e., perinatally) .

is still not known in 40-60% of cases, it has been estab-

lished that several factors can put an embryo at risk.

There is, however, a variable frequency in different

In the case report under review, we found that the baby

presented with some craniofacial disorders like right

mandibular hypoplasia and asymmetry of the jaw in

addition to limb abnormalities. The authors decided to

report this case to raise the awareness of clinicians as

well as ask if any causal relationship can exist with HIV.

populations, ranging from 1.07% in Japan to 4.3% in

Taiwan . It is also important to note that regional varia-

tions occur in₅ the prevalence of specific birth defects.

Rankin et al described trends in total and live birth

prevalence of birth defects, and the regional differences

in prevalence of the defects among five British regions.

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