12Subacute combined degeneration of the spinal cord in a Nigerian child a need for a high index of suspicion

Niger J Paed 2016; 43 (1): 58 – 61

CASE REPORT

Oyinlade OA

Subacute combined degeneration of

Lagunju IA

Balogun TAB

the spinal cord in a Nigerian child: a

Famosaya AA

need for a high index of suspicion

DOI:http://dx.doi.org/10.4314/njp.v43i1.12

Accepted: 19th December 2015

Abstract : Background: Vitamin

from follow up for 8 years after

B12 deficiency has been reported

which

represented

with

Oyinlade OA (

)

to be associated with a spectrum

paraparesis and urinary inconti-

Lagunju IA

of neurological disorders among

nence. He was managed again with

Department of Paediatrics,

College of Medicine, University of

which is subacute combined de-

parentheral vitamin B12 prepara-

Ibadan / University College Hospital,

generation of the spinal cord.

tions with good outcome and total

Ibadan, Nigeria.

Method: We report a case of

resolution of symptoms at dis-

Email: ladealex2005@yahoo.com

subacute combined degeneration

charge.

of the spinal cord secondary to

Conclusion : A high index of suspi-

Balogun TAB, Famosaya AA

vitamin B12 deficiency and dis-

cion is needed in identifying vita-

Department of Paediatrics,

cussed the clinical presentation

min

B12

deficiency

University College Hospital, Ibadan

and management challenge.

paraparesis in paediatric practice

Nigeria.

Result : The diagnosis was made

while the need for indefinite treat-

through a high index of suspicion

ment and follow up is hereby em-

when the clinical presentation

phasized.

ranked highly with the mode of

presentation of Vitamin B12 defi-

Key words: Vitamin B12 defi-

ciency. Patient responded well to

ciency; myelinopathy; parapare-

parentheral vitamin B12 prepara-

sis; subacute combined degenera-

tion but subsequently defaulted

Introduction

Subacute Combined Degeneration of the Spinal Cord

Vitamin B12 (Cobalamin) deficiency results in a wide

(SCDSC), a condition which could result from vitamin

range of haematological and gastrointestinal disorders. It

B12 deficiency can present with varying degree of im-

is well known to be associated with myelinopathy, pe-

pairment of spinal cord functions, often heralded by

ripheral neuropathy, optic neuropathy, memory loss,

posterior column dysfunctions which could manifest as

neuropsychiatry disorders and subacute combined de-

impairment of joint position and vibration sense, ataxia

generation of the spinal cord

(1-4)

. It is a condition that is

and paraesthesia all of which could be accompanied by

relatively commoner in adult than in the paediatric age

varying degree of paresis, increased deep tendon re-

group .

flexes, urinary incontinence and urinary tract infections

2,3,5,9,12

The most frequent causes of Cobalamin deficiency are

malabsorption which may follow pernicious anaemia,

In the nervous system, Vitamin B12 acts as a co-enzyme

gastrectomy, intestinal infections, tropical sprue and

in the methyl-malonyl-CoA mutase pathway necessary

pancreatic exocrine insufficiency . Inadequate absorp-

1,5

for myelin synthesis. Hence, its deficiency results in

tion can also result from deficiency of intrinsic factor, a

defective myelin synthesis resulting in central and pe-

ripheral nervous system dysfunction . Normal plasma

glycoprotein responsible for enhancing the absorption of

Vitamin B12 from the terminal ileum and hereditary

concentration of vitamin B12 does not exclude the diag-

nosis of vitamin B12 deficiency . Hence, there is need

partial transcobalamin II deficiency . Inadequate intake

of vitamin B12 has also been implicated as a major

for a high index of suspicion in diagnosing Vitamin B12

cause of its deficiency especially in vegetarians, simply

associated SCDSC, especially in paediatric age group

because vitamin B12 is mainly sourced from animal

where it is relatively rarer compared to the adult popula-

products

1,5, 8-10

. Other recognized causes include side

tion.

effect of Nitric Oxide, an inhalational general anaes-

thetic agent, usage of which can precipitate Vitamin B12

The most consistent Magnetic Resonance Imaging

deficiency post operatively with its attendant sequelae or

(MRI) finding in SCDSC is a symmetrical abnormally

when employed in substance abuse by adolescents

2,5,11

increased T2 signal intensity confined to the posterior or

posterio-lateral column

4,14

while some pathological find-

tion senses were difficult to assess. Liver was palpable

ings could be multifocal and vacuolated lesions . Early

4cm below the right costal margin, smooth and non-

diagnosis and treatment of Subacute Combined Degen-

tender. Other systemic findings were within normal

eration of the Spinal Cord is important in reversibility of

limit.

neuro-deficits and prevention of permanent neurological

damage . Promptly diagnosed patients respond dramati-

Fig 1: Hyperpigmented

cally to parentheral Vitamin B12 preparations with im-

palms

provement in neurological functions and prevention of

irreversible neuro disabilities.

We report this case to sensitize physicians to a high in-

dex of suspicion of this condition while managing chil-

dren presenting with paraparesis.

Fig 2: Hyperpigmented

Case report

soles. The examiner’s hand

was included for compari-

son

A 4-year-old boy presented at the Paediatric Neurology

Clinic of University College Hospital (UCH), Ibadan on

account of poor growth and recurrent fever of three

years duration, darkening of the palms and feet of 2

years duration, difficulty with walking of 3 weeks dura-

tion and 2 days history of passage of loose stool.

An assessment of possible Vitamin B12 deficiency with

Patient’s illness dated back to 3 years before presenta-

chronic anaemia, spastic paraparesis, recurrent glossitis

tion when mother noticed poor weight gain despite good

and recurrent bacterial infections was made. Full Blood

appetite. He had associated recurrent episodes of fever

Count with Mean Cell Volume (MCV), Mean Corposcu-

and had been treated on outpatient basis for recurrent

lar Haemoglobin Concentration (MCHC) and Mean

acute respirarory tract infections, otitis media and diar-

Corposcular Haemoglobin were requested all of which

rhoea. About 2 years prior to presentation, he was ob-

were elevated except MCHC. [MCH= 34.7pg (Ref

served to have developed progressive darkening of the

range: 26.5-33.5pg); MCHC = 32.8g/dl (Ref range: 31.5

palms and soles. There was no associated hyper pigmen-

-35.5g/dl); MCV=106 fl (Ref range: 80-97fl)]. Red cell

tation in any other part of the body. He was pale most of

morphology revealed macrocytosis and hypochromasia.

the time with associated effort intolerance and inability

He was forthwith commenced on intramuscular (IM)

to play as his peers. His Packed Cell Volume (PCV)

Vitamin B12 1mg alternate days for 2 weeks, then 1mg

ranged from 17%-25% from then till presentation at the

weekly for 6 weeks, then 1mg monthly. Two weeks into

neurology clinic. Haemoglobin genotype was AS.

the therapy, he made a remarkable clinical improvement

There were associated recurrent episodes of mouth ul-

evident by his ability to walk better and improvement in

cers with redness of the tongue, easy bruising and diffi-

appetite. PCV then was 35%. He was thereafter sched-

culty with eating in the 10 months preceding presenta-

uled for another follow-up in 6 weeks. However, patient

tion; and at about 3 weeks prior to presentation, he de-

defaulted from clinical care because mother felt it was

veloped difficulty with walking. Tremors of the hands

no longer necessary and was lost to follow-up.

were also observed while the patient fed himself. There

was no history of seizures.

He represented 8 years later on account of difficulty

with walking of 3 weeks duration, passage of bloody

He started schooling at age 2 1/2 years but has been ir-

urine of 1 week duration and urinary incontinence of 3

regular in school due to recurrent illnesses. Pregnancy,

days duration. Persistence of hyperpigmentation of the

labour and delivery history were not contributory and

palms and soles earlier noted were observed on evalua-

developmental milestones were essentially within nor-

tion. He was unable to walk unaided with grade 4 mus-

mal limits. He was born into a polygamous setting and

cle power in both lower limbs and normal muscle power

there was no history of similar illness in the family.

in both upper limbs. Muscle tone and deep tendon re-

Findings on examination revealed a male child with

flexes were increased in both lower limbs with impair-

sparse depigmented hair. He was a febrile, anicteric with

ment of joint position and vibration sense and bilateral

satisfactory hydration status. He weighed 13.5 kg (96%

extensor plantar responses. A diagnosis of Vitamin B12

of expected) and had hyper pigmentation of the palms

deficiency with SCDSC, spastic paraparesis, impaired

and soles (figures 1 and 2). Grade II digital clubbing

joint position and vibration sense and urinary inconti-

were noted. He was conscious and alert with normal

nence with Urinary Tract Infection (UTI) were made.

speech, occipitofrontal circumference was 50cm which

was normal for his age. There was no cranial nerve defi-

He was readmitted and commenced on IM Vitamin B12

cit. He had ataxic gait and was unable to tandem walk.

1mg alternate days for 2 weeks, then 1 mg weekly for 6

The muscle power was grade 4 in all limbs. The muscle

weeks. Urine Microscopy Culture and Sensitivity

tone was increased in the lower limbs whilst the deep

yielded E. coli for which he had oral cefixime for 1

tendon reflexes were exaggerated in all limbs. There was

week while Spinal Magnetic Resonance Imaging (MRI)

no sustained ankle clonus and joint position and vibra-

showed essentially normal findings. He was also com-

menced on physiotherapy. MCV, MCHC and MCH val-

Vitamin B12 deficiency in this patient could not be as-

ues were increased with presence of macrocytes in the

certained due to paucity of facilities for diagnosis, a pos-

peripheral blood film [MCH=35.4 pg (Ref range: 26.5-

sible postulate is that this might have resulted from

33.5pg); MCHC=39.8 g/dl. (Ref range:31.5-35.5g/dl);

malabsorption probably secondary to lack of intrinsic

MCV= 98.7 fl (Ref range: 80-97fl)] Serum Vitamin B12

factor as history did not suggest inadequate dietary in-

and Folic acid assays were requested but results were

take, previous gastric surgery or inflammatory bowel

still pending as at the last clinic visit. After 2 weeks of

disease. The absence of similar illness in the family also

his management, he regained both day and night conti-

makes the possibility of hereditary transcobalamin II

deficiency unlikely . The skewing of haematological

nence and could walk unaided. He was discharged home

after 3 weeks on admission and prior to discharge, the

parameters (MCV, MCHC, MCH) beyond the upper

patient and his caregivers were counseled on the need to

limit of normal and the presence of macrocytes in the

complete the subsequent doses of Vitamin B12 injection

peripheral blood film during the second admission of

on outpatient basis and continue IM Vitamin B12 1mg

this patient indicate an evolution of megaloblastic anae-

at least 2 monthly indefinitely. The possibility of irre-

mia which is a characteristic haematological manifesta-

tion of vitamin B12 deficiency .

versible neurological damage which could result from

non-compliance was also extensively discussed with

them before discharge. Clinical improvement was sus-

It is pertinent to note that SCDSC could persist despite

tained when he was last reviewed 12 days after dis-

Vitamin B12 administration in some patients with clini-

charge. He was subsequently scheduled for another fol-

cal and radiological features of SCDSC similar to that

secondary to Vitamin B12 deficiency

.(15)

low-up visit in 4 weeks.

When this oc-

curs, the possibility of other metabolic problems such as

hypocupricemia (Copper deficiency) should be sought.

Hypocupric (Copper deficiency) myelopathy is a myelo-

Discussion

pathy which is clinically and radiologically indistin-

guishable from SCDSC due to Vitamin B12 defi-

ciency .

This report illustrates a classical clinical presentation of

SCDSC secondary to Vitamin B12 deficiency. The his-

tory of difficulty with walking and the physical exami-

nation findings of ataxia, paraparesis, increased deep

tendon reflexes and impairment of joint position and

Conclusions

vibration sense together with the dramatic response to

parentheral Vitamin B12 supplements all agree with this

This patient presented with classical clinical picture in

assertion as previously reported in the literatures

2,3,8

keeping with SCDSC secondary to Vitamin B12 defi-

The younger age and normal anatomical findings on

ciency. There is need to keep a possibility of Vitamin

spinal neuroimaging in this patient likely contributed to

B12 deficiency in view while evaluating and managing

the favourable outcome of his management, more-so

patients with paraparesis, especially when such patients

that previous reports have shown strong correlation

fail to respond to conventional management of common

between presence of anatomical lesions on spinal neuro

aetiologies of paraparesis in paediatric age group. The

imaging of patients with Vitamin B12 deficiency-related

recurrence of this condition in this patient further illus-

SCDSC and permanent neurological damage .

4,9

trates the consequence of neglecting a cheap and highly

effective therapy and the need for an indefinite follow-

Although the exact aetiological agent responsible for

up and treatment.

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