3
47
or breathing. No preceeding history of head trauma,
drug use or seizures. He had bilateral ptosis, easy fatiga-
bility of the muscles of the hands and shoulder girdle.
No neck swelling or hypertension. Serum biochemistry,
thyroid function tests, neck ultrasound and Brain MRI
were normal.
He had a dramatic response to Tensilon test using Neo-
stigmine and was subsequently commenced On Oral
Neostigmine bromide and is doing well on clinic follow
up. The relative rarity of Juvenile Myasthenia Gravis
results in a dearth of local studies especially in the pedi-
atric population.
neonate with progressive respiratory distress from birth.
He was seen in children’s emergency room 2 hours after
vaginal delivery from a peripheral clinic with difficult
breathing. Pregnancy and delivery were uneventful and
born to non-consanguineous monogamous parents. On
examination he was dyspnoeic, cyanosed with mal-
formed and fractured upper and lower limbs. An assess-
ment of osteogenesis imperfecta type II was made and
resuscitation instituted. However respiratory distress
worsened and baby died at 6 days of life.
Conclusion: Ultrasonography is useful for prenatal diag-
nosis of the severe forms of OI. If detected prenatally a
more appropriate management can be instituted to re-
duce morbidity and mortality.
P203
Beckwith Weidemann Syndrome: A Case Report
P206
Amadi OF, Ezenwosu OU, Nwokoye IC, Ani SO.
Department of Pediatrics, Enugu State University
Teaching Hospital, Park-Lane, Enugu
Prune Belly Syndrome Presenting In a Set of Twins
at the National Hospital Abuja: A Case Report
Audu LI, Mukhtar-Yola M, Mairami AB, Otuneye AT,
Tahir LM, Papka NY, Mshelia LJ, Maitala H.
National Hospital Abuja.
Background: Beckwith Weidemann Syndrome is a con-
genital disorder made up of a myriad of anomalies char-
acterized by overgrowth of body tissue (Visceromegaly),
anatomic defects and metabolic derangement.
Incidence is stated to be 1 in 15,000 live births in the
general population with a higher incidence amongst
babies conceived by in Vitro fertilization. It is associ-
ated with chromosomal re-arrangement with 85% of the
rearrangement occurring sporadically.
Introduction: Prune belly Syndrome, a rare congenital
malformation presenting at birth with multiple organ
involvement has rarely been reported in multiple gesta-
tions.
Case Presentation: Delivered at 34weeks, both babies
were noticed to have lax anterior abdominal wall, bilat-
eral flank fullness, multiple abdominal masses and un-
descended testes at birth. Antenatal ultrasound had indi-
cated the presence of abnormalities in only one baby.
Case presentation: Baby LE was delivered to a 29 years
old para – 2 lady by Cesarean section for pre-eclampsia
and breech presentation. Routine Antenatal ultrasound
done in the second trimester revealed polyhdramnois,
foetal Macrosomia and ® Hydronephrosis. The paediat-
ric team took over immediately after birth. The Random
Blood Sugar done within 10 minutes of birth showed
blood glucose of 35 mmol/L (1.9mm/L) in a macro-
somic female neonate with birth weight 5.4kg and
st
Their 31-year-old mother had had 3 previous 1 trimes-
ter abortions. Both twins had bilateral loop
th
ureterostomies on the 5 day of life that resulted in some
improvement in their renal functions. Although the
babies were discharged at the age of 24 days to be fol-
st
lowed up at the clinic, the 1 twin died from suspected
1
3
Apgar score of 5 8 . She was noted to have several
dysmorphic features.
aspirandtion at home during the late neonatal period, while
the 2 twin died from an infection in early infancy.
Conclusion: Management of this rare condition is still a
big challenge in our environment.
Her management was multi-disciplinary involving the
pediatric surgeons and the orthopaedic surgeons. She
th
was discharged on the 30 day of life and is currently 8
months old and still being followed-up in the clinic.
Conclusion: Early and coordinated multi-disciplinary
management would improve survival and quality of life
in affected children even in resource poor setting.
P301
Congenital Hypothyroidism: A Call for Renewed
Effort towards Neonatal Screening
Idris HW. Mado SM, Abdullahi S, Abdullahi M,
Abegunde T, Abdullahi U, Mayaki S.
P205
A Case of Osteogenesis Imperfecta Type II, A
Diagnosis made almost Too Late in a Resource Poor
Setting
Department of Pediatrics, Ahmadu Bello University
Teaching Hospital, Shika-Zaria.
Background: Congenital hypothyroidism is one of the
commonest endocrine disorder in the new born. It is one
of the major causes of preventable impairment in physi-
cal growth and mental retardation. Commonly grouped
together as thyroid dysgenesis, maldevelopment (aplasia
and hypoplasia) and maldescent (ectopic gland) are the
usual cause. However, worldwide, neonatal screening
programs have significantly reduced the incidence of
intellectual deficits in hypothyroid children treated early.
Objective: To highlight the need for early diagnosis and
Ibekwe MU, Ogugua CF, Ogeh CO.
Federal Teaching Hospital Abakaliki
Introduction: Osteogenesis imperfecta (OI) is a rare
autosomal dominant disorder of COL I, characterized by
excessive bone fragility with low bone mineral density
(
BMD). Types II is associated with extreme bone fragil-
ity leading to intrauterine or early infant death.
Case presentation: we report a case of a full term male