eNeurologicalSci 3 (2016) 33–34
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j ourna l homepage: ht tp : / /ees.e lsev ie r .com/ensc i /Consanguinity and rare neurological disease. A five year experience from
the Korle Bu Teaching Hospital, Accra, GhanaE.V. Badoe
Department of Child Health, School of Medicine and Dentistry, University of Ghana, GhanaE-mail address: benbadoe@gmail.com.
http://dx.doi.org/10.1016/j.ensci.2016.01.002
2405-6502/© 2016 The Author. Published by Elsevier B.Va b s t r a c ta r t i c l e i n f oArticle history:
Received 15 September 2015
Received in revised form 8 January 2016
Accepted 21 January 2016
Available online 22 January 2016Introduction:Marriage between close biological kin is not regarded as advantageous in the western world but in
other parts of theworld, consanguineous unions persist. Consanguineousmarriage increases the birth prevalence
of individuals with recessive disorders. In Accra, Ghana, consanguinity is beginning to emerge as a significant
cause of rare neurological disease at the central referral hospital at Korle Bu in Ghana.
Method: Documentation of rare neurological and genetic diseases over a five year period resulting from consan-
guinity (2010–2015) presenting to the Department of Child Health, Korle Bu Teaching Hospital, Accra.
Results: One of the three siblings with zeroderma pigmentosum was identified as the rare De Sanctis Cacchione
syndrome which has not been previously reported from West Africa. Five cases of spinal muscular atrophy in-
cluding three consecutive siblings with the disease, MCADdeficiency (1), inborn errors ofmetabolism (1), ceroid
lipoid fuscinosis (6), a case of Meckel Gruber syndrome.
Conclusion: Rare neurological disease occurs in West African communities as a result of consanguinity.
© 2016 The Author. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license
(http://creativecommons.org/licenses/by-nc-nd/4.0/).Keywords:
Consanguinity
Ghana1. Introduction
Genetic disorders place significant health and economic burdens on
health care systems. A consanguineous relationship is one between in-
dividuals who are second cousins or closer. The purpose of this research
was to document the existence of consanguinity as a basis of rare
neurological disease in the paediatric population of Ghana.
A male child presented to the Korle Bu Teaching Hospital (Depart-
ment of Child Health) in January 2008 with a generalized rash of two
years duration. It started at the age of three months and had evolved to
show a pustular rash, hypo and hyper pigmented lesions and recurrent
lip ulceration. A chronic discharge had been noted from both eyes. It
emerged that the children were products of a consanguineous marriage.
The parents were first cousins. The paediatric ophthalmologist made a
diagnosis of a squamous cell carcinoma in situ after an excision biopsy.
A neurology consult was requested because of delayed development.
The classic features of Xeroderma Pigmentosum (XP) were present.
The child had a clear ataxic gait. His head circumference was 44 cm,
less than 0.4th centile (microcephaly). His height was 94 cm (less than
0.4th centile). The penile length was 1.75 cm (micropenis). His weight
was 12 kg (less than 0.4th centile). The testeswere undescended. Neuro-
logic examination demonstrated normal tone and power but reduced re-
flexes. Using the schedule of Growing skills 2 to assess his overall. This is an open access article underdevelopment, he was found to be functioning at 24 months instead of
36 months. A CT scan of the brain done was normal. The EEG was how-
ever abnormal, dominated by fast waves and several isolated spikes. A
few endocrine tests that the parents could affordwere abnormal. Lutein-
izing Hormone— 0.1Miu/ml (normal 7.6), Follicle stimulating Hormone
— 0.7 (normal less than 3.0 u/L), and serum Prolactin — 342 (normal
60—390mU/L). He had cryptorchidism. He later on developed spasticity
of the lower limbs andmore eyelid carcinomas. On the basis of global de-
velopmental delay, ataxia and XP, a diagnosis of De Sanctis de Cacchione
syndrome was made.1.1. Case 2
A 24 h old male baby was admitted to the neonatal unit of the hos-
pital with multiple congenital anomalies. The neonate was noted to
have a small head 31 cm (b0.4th centile) and was floppy with posteri-
orly rotated ears. There was a ruptured, moderately sized occipital
encephalocele. Other significant anomalies documented included a pos-
terior central cleft palate, a bell shaped thorax. Enlarged kidneys were
palpated with a palpable bladder and postaxial polydactyly. An autopsy
confirmed polycystic kidneys. All the features were consistent with
Meckel Gruber syndrome. There was consanguinity. Both parents
were second cousins and from the northern part of Ghana.
A six year old boy presented in March 2014 with seizures occurring
during themornings andmore recently an episode of status epilepticus.the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
34 E.V. Badoe / eNeurologicalSci 3 (2016) 33–34The final diagnosis was Medium Chain Acyl CoA dehydrogenase
deficiency after documenting hypogylcaemia with no ketonuria and re-
current seizures. Themother's paternal uncle turned out to be the father
of the child.
1.2. Case 4
Over a period of five years the Child Health Department recorded
thirty cases of neurodegenerative disorders and 90% were from the
Volta region of Ghana. 25 out of 30 cases appeared to beNeuronal ceroid
lipofuscinosis from the clinical and MRI features and notably six cases
showed evidence of consanguinity. They were all second cousins.
1.3. Case 5
Spinal muscular atrophy has been recorded with children from the
Northern andEwe tribes. Therewas one familywith threemale children
in a rowwith type 2 SMA. Five recorded cases came from consanguine-
ous backgrounds out of 14 cases over the past four years.
2. Discussion
It is likely that the impact of consanguinity has not been fully recog-
nized in West Africa. Consanguinity is a common indication for genetic
counseling but it rarely occurs in our hospitals. The highest rates of con-
sanguineous marriage are reported from the Middle East, North Africa
and Central Asia where more than 25% of the world's population live
and second cousins or closer relatives account for more than fifty per-
cent of all marriages [1]. The mountainous terrain in the Volta region
of Ghana may have led to inbreeding, generation ago in my opinion. A
recessive founder can rapidly increase in frequency resulting in birth
of an affected child whether the parents are known to be consanguine-
ous or believe themselves to be non-relatives [2]. The presence ofconsanguinity increases the probability of an autosomal recessive con-
dition as well as non-genetic conditions and an increased risk for devel-
opmental delay and neonatal death. The risk increases when there are
multiple consanguineous marriages within the same kindred [2].
It does appear that in Ghana and other parts ofWest Africa there are
social and economic advantages of consanguineous marriage for it to
persist even with the apparent decline in the Western world. There
are reduced chances of maltreatment, simplified bride premarital nego-
tiations, greater social compatibility of the bride with her husband's
family, the reduced requirement for dowry and maintenance of the
family goods and monies [3].
Ghana currently has a population of 27 million.3. Conclusion
Rare neurologic disease has been recorded in Ghana as a result of
consanguinity. Genetic counseling centers should be established in the
Teaching Hospitals. Ethical issues in clinical genetics should be empha-
sized in postgraduate training in the subregion.Conflict of interest
The authors declare that there are no conflicts of interest.References
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