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Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene.

Malhotra HS, Juyal R, Malhotra KP, Shukla R - Ann Indian Acad Neurol (2011)

Bottom Line: Macroglossia is rare in patients of Duchenne muscular dystrophy (DMD), and its occurrence without any endocrinologic abnormality, seizures or an abnormal karyotype is even rarer.We describe a patient of DMD with isolated macroglossia with 271 bp deletion in exon 50 of the dystrophin gene and speculate a relationship in this regard.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Institute of Human Behaviour and Allied Sciences, Dilshad Garden, Delhi, India.

ABSTRACT
Macroglossia is rare in patients of Duchenne muscular dystrophy (DMD), and its occurrence without any endocrinologic abnormality, seizures or an abnormal karyotype is even rarer. We describe a patient of DMD with isolated macroglossia with 271 bp deletion in exon 50 of the dystrophin gene and speculate a relationship in this regard.

No MeSH data available.


Related in: MedlinePlus

(a) Side view of the face demonstrating protruded lower jaw and improper closure of the mouth. (b) Front view of the patient demonstrating macroglossia
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Figure 0001: (a) Side view of the face demonstrating protruded lower jaw and improper closure of the mouth. (b) Front view of the patient demonstrating macroglossia

Mentions: On examination, the child was of average stature and had a normal intelligence quotient. Lingual apex was measured to be 1.4 cm outside dentition. Impression of teeth on lateral lingual borders as well as incomplete jaw closure [Figure 1], fulfilled the criteria of macroglossia.[3] On dental examination, the maxillary and mandibular arch breadths were found to be larger than usual. Motor system examination revealed selective wasting of biceps, triceps, supraspinatus, lattisimus dorsi, pectoralis major, quadriceps and peroneii. The gastrocnemius and infraspinatus muscles were relatively preserved. Range of motion was reduced at the ankles, knees and left elbow joint, secondary to contractures. The tone was reduced at all joints. Power by Medical Research Council grade was 1/5 at the shoulder, 2/5 at the elbow, 4/5 at the wrist, 1/5 at the hip, 2/5 in the knee extensors and 3/5 in the knee flexors. Mild weakness of hand grip was present. Estimation of power at the ankles was not possible owing to the development of contractures. Moderate truncal weakness was present. Deep tendon jerks were absent with a flexor plantar response. Other neurological examination did not reveal any abnormality.


Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene.

Malhotra HS, Juyal R, Malhotra KP, Shukla R - Ann Indian Acad Neurol (2011)

(a) Side view of the face demonstrating protruded lower jaw and improper closure of the mouth. (b) Front view of the patient demonstrating macroglossia
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3108079&req=5

Figure 0001: (a) Side view of the face demonstrating protruded lower jaw and improper closure of the mouth. (b) Front view of the patient demonstrating macroglossia
Mentions: On examination, the child was of average stature and had a normal intelligence quotient. Lingual apex was measured to be 1.4 cm outside dentition. Impression of teeth on lateral lingual borders as well as incomplete jaw closure [Figure 1], fulfilled the criteria of macroglossia.[3] On dental examination, the maxillary and mandibular arch breadths were found to be larger than usual. Motor system examination revealed selective wasting of biceps, triceps, supraspinatus, lattisimus dorsi, pectoralis major, quadriceps and peroneii. The gastrocnemius and infraspinatus muscles were relatively preserved. Range of motion was reduced at the ankles, knees and left elbow joint, secondary to contractures. The tone was reduced at all joints. Power by Medical Research Council grade was 1/5 at the shoulder, 2/5 at the elbow, 4/5 at the wrist, 1/5 at the hip, 2/5 in the knee extensors and 3/5 in the knee flexors. Mild weakness of hand grip was present. Estimation of power at the ankles was not possible owing to the development of contractures. Moderate truncal weakness was present. Deep tendon jerks were absent with a flexor plantar response. Other neurological examination did not reveal any abnormality.

Bottom Line: Macroglossia is rare in patients of Duchenne muscular dystrophy (DMD), and its occurrence without any endocrinologic abnormality, seizures or an abnormal karyotype is even rarer.We describe a patient of DMD with isolated macroglossia with 271 bp deletion in exon 50 of the dystrophin gene and speculate a relationship in this regard.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Institute of Human Behaviour and Allied Sciences, Dilshad Garden, Delhi, India.

ABSTRACT
Macroglossia is rare in patients of Duchenne muscular dystrophy (DMD), and its occurrence without any endocrinologic abnormality, seizures or an abnormal karyotype is even rarer. We describe a patient of DMD with isolated macroglossia with 271 bp deletion in exon 50 of the dystrophin gene and speculate a relationship in this regard.

No MeSH data available.


Related in: MedlinePlus