Medical

Communication

Biosci. Biotech. Res. Comm. 10(2): 182-186 (2017)

The oral and maxillofacial manifestation and

surgical consideration in Maroteaux Lamy syndrome

(mucopolysaccharidosis VI): A case report

Farnoosh Mohammadi, DDS, OMFS

and Iman Tavakoli DDS

Assistant Professor, Department of Oral and Maxillofacial Surgery of Tehran University of Medical Sciences,

Tehran, Iran

Resident of Oral & Maxillofacial Surgery, Department of Oral and Maxillofacial Surgery, Craniomaxillofacial

Research Center, Tehran University of Medical Sciences, Tehran, Iran

ABSTRACT

The role of the genetic disorders in maxillofacial manifestations is well documented. Maroteaux Lamy syndrome

(mucopolysaccharidosis VI) is a metabolic and chromosomal abnormality which involving disturbances in mucopoly-

saccharide metabolism and storage of acid mucopolysaccharide in various tissues. The main factor for Maroteaux

Lamy syndrome is de ciency of arylsulfatase B. Deposition of mucopolysaccharides leads to a progressive disorder

which has several oral and dental manifestations including condylar hypoplasia, long-coarse face, anterior open bite,

cranial deformity, macroglossia, malposition teeth, gingival  bromatosis and under-developed maxillary sinus. Also,

a large head, short neck and corneal opacity are the main characteristic features.In this study a case of 4 years old

girl with Maroteaux-Lamy syndrome with emphasis on oral and maxillofacial manifestations and practical surgical

hints for correction of maxillofacial deformity introduced.

KEY WORDS: MAXILLOFACIAL MANIFESTATION, SURGICAL CONSIDERATION, MAROTEAUX LAMY SYNDROME

182

ARTICLE INFORMATION:

*Corresponding Author: iman1122@gmail.com

Received 1

Feb, 2017

Accepted after revision 14

June, 2017

BBRC Print ISSN: 0974-6455

Online ISSN: 2321-4007 CODEN: USA BBRCBA

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INTRODUCTION

MaroteauxLamy syndrome or mucopolysaccharido-

sis (MPS) type VI is a rare genetic disorder with auto-

somal recessive transmissionswas  rst described in 1963

(Maroteaux et al. 1963). This syndrome characteristic by

de ciency of arylsulfatase B (N-acetylgalactosamine-4-

sulfatase), which results in the accumulation of derma-

tan sulfate and chondroitin 4-sulfate within lysosomes

of the connective tissues occurs

(Azevedo et al. 2004;

Valayannopoulos et al. 2010). The somatic features of

in the Maroteaux-Lamy syndrome patients is similar to

Farnoosh Mohammadi and Iman Tavakoli

the other mucopolysaccharidosis (Roberts et al. 1984)

however it is distinguished by the existence of normal

intelligence, prominent metachromatic inclusions in

leukocytes as well as lack of arylsulfatase B (Alpoz et al.

2006). Arylsulfatase B plays critical role in degradation

of glycosaminoglycans (GAG) such as dermatan sulfate

and chondoitine sulfate (Neufeld et al. 1995; Valayan-

nopoulos et al. 2010).The etiology of MPS type VI is

mutation in arylsulfatase B gene which is located on the

chromosome 5q13-5q14 (Litjens et al. 1989). The ana-

tomic feature of the disease is characteristic with growth

retardation, hernias, typical facies, a large deformed

head with short neck and spinal abnormalities (Valayan-

nopoulos et al. 2010, Fonseca et al. 2014).

In the sever condition, death can happen in result of

cardiac disease or respiratory tract infection (Wiedemann

et al. 1992). In this study a case of 4 years old girl with

Maroteaux-Lamy syndrome with emphasis on oral and

maxillofacial manifestations and practical surgical hints

for correction of maxillofacial deformity introduced.

CASE REPORT

BASIC INFORMATION

A 4 yearand 6 months-old girl withMaroteaux-Lamy syn-

drome was admitted to the Children’s Medical Center of

Tehran University of Medical Science, Tehran, Iran. She

was the only child of a young couple with no consan-

guinity. They were aware of traits of syndrome since 3

years ago. Small size, disability in extension of upper and

lower limb and abnormal facial appearance were the ini-

tial symptoms mentioned by the parents. Investigations

revealed no cardiac, ophthalmic, mental or hearing dis-

order. She was not able to walk because of short stature,

generalized dysostosis and joint deformity. She had no

mental de cit but she was not able to speak. Huge gin-

gival overgrowth, macroglossia and abnormal anatomy

were contributed to her speechless. Oral and maxillofacial

manifestations include large head, long coarse face, hyper-

telorism, bushy eyebrows, deep nasojugal fold, marked

open bite and open mouth breathing, infra-erupted teeth

and gross gingival  bromatosis (Figure1). The weight of

the patient before the surgery was 7.8kg. The lysosomal

enzyme analysis showed decreased activity of arylsulfa-

tase B in blood sample was determine using arylsulfatase

B enzyme assay (normal 300-900 nmol/h/mg) (Baum et al.

1959). The blood arylsulfatase B was 0.14 - 0.70 nmol/21h.

The 3D computed tomography (CT) scan showed displaced

position of teeth, hypoplastic condyle and dysmorpho-

genic cranio-maxillofacial skeleton (Figure 2, 3). An

FIGURE 1. Severe gingival overgrowth is

obvious in clinical examination.

FIGURE 2. 3D CT scan of the patient in frontal and sagittal

view, malposition teeth and skeletal open-bite are

considerable.

BIOSCIENCE BIOTECHNOLOGY RESEARCH COMMUNICATIONS THE ORAL AND MAXILLOFACIAL MANIFESTATION AND SURGICAL CONSIDERATION 183

Farnoosh Mohammadi and Iman Tavakoli

FIGURE 3. Tracheostomy was carried out to provide a secured air way.

FIGURE 4. Soft tissue removal for 1 quadrant of upper jaw.

elective tracheostomy was performed was done under

general anesthesia (Figure 4). Skin stiffness, rigidity of tra-

chea and narrowing of air passage during procedure were

considerable. Short neck and small stature made the pro-

cedure more dif cult. Gingivectomy was done in a large

scale for each quadrant (Figure 5, 6).

SURGERY PROCEDURE

The blade no.15 followed by the blade no.10 was applied

for the last three quadrants due to thickness and inelas-

ticity of gingival tissue. Most of the incisor teeth were

infra-erupted because of gingival overgrowth and the

other teeth were impacted. Some teeth contained large

and thick follicle like a dentigerous cyst. Malposition-

ing of impacted teeth, underdeveloped maxillary sinus,

taurodontism and thin cortical bone in buccal area of

mandibular molar were revealed during surgical explo-

ration. After gingivectomy, all the teeth were extracted

and the bone was shaved and reshaped. After opera-

tion, the patient was admitted to the intensive care unit

(ICU) and intubated. 3 weeks after surgery when she was

ready to wean from mechanical ventilation, extubation

was carried out but a few minutes after extubation, oxy-

gen saturation decreased, she became cyanotic and the

ICU staffs were not able to re-intubate her because of

bronchospasm.

DISCUSSION

The MPS type VI is an inborn metabolic and autosomal

recessive disease caused by mutations in the arylsulfa-

tase B gene (Alpoz et al. 2006). A mutation in chro-

mosome 5 is responsible to this syndrome (Baehner et

al. 2005). This enzyme is called N-acetyl galactosamine

4-sulfatase which plays an important role in metabo-

lism of GAG (Malm et al. 2007).

This gene is required

for the degradation of dermatan sulfate and de ciency

leads to cumulation of undegraded or partially degraded

184 THE ORAL AND MAXILLOFACIAL MANIFESTATION AND SURGICAL CONSIDERATION BIOSCIENCE BIOTECHNOLOGY RESEARCH COMMUNICATIONS

Farnoosh Mohammadi and Iman Tavakoli

BIOSCIENCE BIOTECHNOLOGY RESEARCH COMMUNICATIONS THE ORAL AND MAXILLOFACIAL MANIFESTATION AND SURGICAL CONSIDERATION 185

mucopolysaccharides which results in large lips and

thick gingival tissue and corneal opacities (Alpoz et al.

2006). It is reported the frequency of the MPS type VI

ranges from 1:100 000 births to 1:1300 000 in various

populations (Meikle et al. 1999).

Diagnosis of the MPS type VI is based on clinical

manifestation and paraclinical evaluation. The cardiac

disease is common phenomenon in these patients. Based

on the previous reports in a population of 28 patients

with MPS type VI mitral valve stenosis was the most

common cardiac problem, however, patient showed a

normal cardiac function (Azevedoet al. 2004). Pulmo-

nary diseases are other important problems in this syn-

drome. Nasopharyngeal space is decreased due to verti-

cal facial skeleton overgrowth and deposition of GAG

which may lead to respiratory dif culty (Fonseca et al.

2014). Special consideration should be taken on airway

management in these patients during general anesthesia

because of dif cult intubation. Tracheostomy is recom-

mended in severe cases. Short and in exible neck, nar-

row trachea and tracheomalacia can make this procedure

more dif cult. Special note should be focused on extu-

bation in these cases. Although ophthalmological and

hearing problems are frequently seen in these patients,

in the current study, our patient had none of these prob-

lems. Severe skeletal problems and growth retardation

were observed in this case. She had bilateral  xed  exed

hips and also was not able to extend the neck or the

arms. Very small stature and low weight (7.8 kg) with

age of 4 years and 6months were remarkable.

Craniofacial dysmorphologyare characteristic in Mar-

oteaux Lamy syndrome. Large head, coarse facial appear-

ance, bushy eyebrow, deep nasojugal groove and hyper-

telorism are the main of these features. Dolichocephalic

growth pattern causes todecreasenasopharyngeal space

and leads do dyspnea (Fonseca et al. 2014). Also, under-

developed condyle, macroglossia and huge gingival

 bromatosis were contributed to open bite. Magnetic

resonance imaging revealed cartilage proliferation in

the retrodiscal tissue and anterior disk displacement

(Cavaleiro et al. 2013). Several dental problems such as

impacted teeth, buccally inclined teeth, cyst-like follicle,

malposition teeth and taurodontism are reported (Alpoz

et al. 2006). In this case, extraction of most of the teeth

was inevitable. Huge gingival  bromatosis and follicu-

lar formation around the crown of the teeth had made

the eruption of the teeth impossible. It is reported early

enzyme replacement therapy in siblings have bene cial

effects on facial morphology, joint mobility and cardiac

valve pathology (McGill et al. 2010).

In conclusion, despite Maroteaux-Lamy syndrome is

not encountered routinely in dental practice, such cases,

if properly managed, will maintain their oral and gen-

eral health for the remainder of their lives. So, this stud-

ied revealed the importance of screening in newborns

but surgical treatment in many cases is required.

FIGURE 5. Gingivectomy and tooth removal with attached cyst.

Farnoosh Mohammadi and Iman Tavakoli

186 THE ORAL AND MAXILLOFACIAL MANIFESTATION AND SURGICAL CONSIDERATION BIOSCIENCE BIOTECHNOLOGY RESEARCH COMMUNICATIONS

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