CASE REPORT

Niger J Paed 2014; 41 (2): 136 –144

Ibekwe MU

Ogugua CF

Ogeh CO

A case of osteogenesis imperfecta

type II, a diagnosis made almost too

late in a resource poor setting

Ukoh UC

DOI:http://dx.doi.org/10.4314/njp.v41i2,12

Accepted: 27th October 2013

Abstract Background: Osteo-

genesis imperfecta (OI) is a rare

autosomal dominant disorder of

type I collagen (COL I), charac-

terised by excessive bone fragility

with low bone mineral density

vaginal delivery in a peripheral

clinic. Pregnancy and delivery

were uneventful and the baby was

born to non-consanguineous, mo-

nogamous parents. On examina-

tion he was dyspnoeic, cyanosed

with malformed and fractured up-

per and lower limbs. A working

diagnosis of osteogenesis imper-

fecta type II was made and baby

was placed on oxygen via face

mask. However respiratory distress

worsened and baby died at 6 days

of life.

Conclusion: Antenatal ultrasono-

graphy might have led to diagnosis

in utero. If detected prenatally a

more appropriate management can

be instituted to reduce morbidity

and mortality.

(

)

Ibekwe MU

Ogugua CF, Ogeh CO, Ukoh UC

Department of Paediatrics,

Ebonyi State University

Abakaliki, Nigeria

(

BMD). Type II is associated

with extreme bone fragility lead-

ing to intrauterine or early infant

death.

Objective: To highlight a case of

OI type II and the need for an

early detection of this rare bone

disorder through non invasive

prenatal diagnosis.

Case Report: We report a case of

a full term male neonate with pro-

gressive respiratory distress from

birth. He was seen in children’s

emergency room two hours after

Introduction

delivery in a peripheral clinic with difficult breathing

and lower limb deformity. Pregnancy was booked at six

months in a peripheral clinic and was uneventful. Preg-

nancy was carried to term and delivery was vaginal.

Baby was the youngest of three children born to a non-

consanguineous, monogamous parents. Other siblings

are alive and well. Neither parent has a limb deformity.

However, a maternal aunt does have a deformity of un-

known cause. Both parents are primary school teachers.

On examination he was dyspnoeic, cyanosed with a res-

piratory rate of 80 cycles per minute. He weighed 3 kg;

Osteogenesis imperfecta (OI) is a rare genetic disorder

caused by mutation of the gene that encodes the peptide

chains that_,₂constitute type I collagen (COL1A1 and₂

COL1A2). This is the major collagen of the skeleton.

It is characterised by excessive bone fragility with low

bone mineral density (BMD). There are eight different

types of OI as classified by Sillence. Types I ,II,III,IV

and V are inherited as an autosomal dominant conditions

while the other forms are inherited in an autosomal re-

cessive manner. Type I is a mild form and the most

common type accounting for 50% of the total OI in the

body temperature was 37 C. Pulse rate was 164 beats

per minute and was regular. Baby had blue sclera and

was lying in a frog-like position. There was bilateral

shortening and deformity of the lower limbs below the

knee joints.

population . Type II presents with severe bone fragility

and is associated with intrauterine fractures and perinatal

lethality. The incidence of OI is estimated to be 1 per

0,000 live births; 6-7 per 100,000 people are affected

worldwid₃e and there are no gender, racial or ethnic dif-

ferences. We highlight a case of OI type II and the

need for an early detection of this rare bone disorder

through non invasive prenatal diagnosis.

Fig1: Lower limb

deformity of baby

with OI

Case report

We report a case of a full term male neonate with pro-

gressive respiratory distress from birth. He was seen in

the children’s emergency room two hours after vaginal

It was associated with hypotonia and multiple fractures

of the upper and lower limbs Baby was also severely

pale with a PCV of 12%. A working diagnosis of os-

teogenesis imperfecta type II was made. Plain radiogra-

phy of baby revealed multiple fractures involving the

ribs and the long bones (fig2). Respiratory assistance

was given to baby by placing on oxygen via face mask,

and was in addition transfused with blood. However

respiratory distress worsened and baby died at six days

of life.

of delivery to be planned. For instance, caesarean sec-

tion is usually avoided if the fetus is shown to have the

lethal forms with minimal chances of surviva₄l. Also, the

parents can benefit from genetic counselling.

Many peripheral clinics in Nigeria do not have facilities

to offer routine ultrasound services during antenatal

care. However, patients should be referred to hospitals

where such services are available. This pregnancy was

uneventful and therefore appeared to have no cause for

further investigation beyond the limit and capacity of a

local clinic. This underlines the need for at least one

routine antenatal ultrasound scan even in apparently

normal pregnancies.

Fig 2: Radiograph showing

multiple fractures of long

bones

As OI is usually inherited in an autosomal manner

genetic counselling is strongly recommended in this

family as this will benefit them if they plan for future

pregnancy. Chorionic villus sampling (CVS) done at

about ten to 12 weeks gestation will be helpful to ex-

clude OI in future pregnancy . The baby died within the

first week of life preceded by a worsening severe respi-

ratory distress. This is characteristic of OI type II where

Discussion

and survival beyond one year is rare . Death usually

results from pulmonary insufficie₁n_,₂c_,₃y_,₅r_,₆e_,₇lated to the small

thorax, rib fractures, or flail chest

0% of affected babies die within th₁_,e₂_,₅f_,₇irst week of life

The patient presented with severe respiratory distress

due to multiple rib fractures. He also had severe bone

deformities and suffered early infant death. These are

classical feature₁s_,₂ of osteogenesis inperfecta (OI) of the

Sillence type II . This is a severe form of OI inherited

as autosomal dominant form. Apart from the maternal

aunt who has a leg deformity both parents are said to be

essentially normal. Most infants with more severe

forms of osteogenesis imperfecta (such as type II and

type III) have no history of the condition in their family.

In these infants, the condition is caused by new

Conclusion

Routine ultrasonography should be offered even in

apparently normal pregnancies. In the index case, early

detection of OI would have been enhanced. Parents of

probands with OI will benefit from genetic counselling

to discuss future pregnancies.

(

sporadic) mutations in the COL1A1 or COL1A2 gene.

This diagnosis was completely missed during gestation

and hence the late presentation. The mother could have

benefited from non invasive prenatal diagnosis such as

routine ultrasound. Routine ultrasound done as early as

Conflict of Interest: None

Funding: None

0 weeks gestation can detect the lethal forms of OI and

early diagnosis allows for the most appropriate method

References

Thompson EM . Non-invasive

6. Moosa S.Perinatal lethal osteo-

genesis imperfect. South Afr. J

Rad. 2012 16(4) 141-142

7. Aigoro NO, Oloko MA. Osteo-

genesis Imperfecta: Report of Two

Consecutive Cases in a Monoga-

mous Family from South-West,

Nigeria. Niger J orth. trauma.

2009; 8(1)

Levine MA: common bone and

mineral disorders of childhood. In

Manual of Endocrinology and

Metabolism 4 Ed Wolters Klu-

wer/ Lippincott Williams & Wil-

kins 2009: 381-413

Basel D, Steiner RD.Genet. recent

findings shed new light on this

once well-understood condition.

Osteogenesis Imperfecta Med.

prenatal diagnosis of osteogenesis

imperfecta. Am J Med Genet. 1993

Jan 15;45(2):201-6.

Steiner RD, Adsit J, Basel D.

COL1A1/2-Related Osteogenesis

Imperfecta. 2005 Jan 28 [Updated

013 Feb 14]. In: Pagon RA, Bird

TD, Dolan CR, et al., editors.

GeneReviews™ [Internet]. Seattle

(WA): University of Washington,

009;11(6):375-85.

Seattle; 1993 .

Joan C. Marini Osteogenesis Im-

perfecta In: Kleigman, editor. Nel-

son Textbook of Pediatrics e-dition

8th Edition. Philadelphia: El-

sevier; 2007