Limits...
Schwartz-Jampel syndrome.

Chandra SR, Issac TG, Gayathri N, Shivaram S - J Pediatr Neurosci (2015 Apr-Jun)

Bottom Line: Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features.Diagnosis is made by awareness into the typical phenotypic characters.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

ABSTRACT
Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters.

No MeSH data available.


Related in: MedlinePlus

X-ray showing normal pelvic bones in spite of pelvis moving en bloc
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4489067&req=5

Figure 2: X-ray showing normal pelvic bones in spite of pelvis moving en bloc

Mentions: Routine blood chemistry, thyroid function tests, liver and renal function tests, serum lactate, and ammonia were within normal range. His creatine kinase was 294 units. Cardiac evaluation was normal. Tandem mass spectroscopy for metabolic diseases was normal. X-ray of the pelvis and hip was normal [Figure 2]. Nerve conduction studies, both motor and sensory were normal. Needle electromyography was done at 2 sites, right biceps and right quadriceps. The insertional activity and spontaneous activity were abundant and persistent. This consisted of discharges with variation in amplitude and frequency [Figure 3a–c]. Mild needle displacement produced bursts of activity which was associated with dive-bomber sound. When the needle was kept still, the spontaneous discharges continued. Motor unit potential could not be measured properly. There were complex repetitive discharges with uniform morphology. The baseline never became silent. Muscle magnetic resonance imaging and genetics were not done because of financial constraints. Muscle biopsy was done from the left biceps. Paraffin and cryosections showed skeletal muscle tissue with preserved fascicular architecture. The fibers were polygonal with few atrophic and angulated fibers. Focal grouped nuclei and regenerating fibers were seen. Modified Gomori's trichrome stain did not reveal any abnormality. Succinyl dehydrogenase, nicotinamide adenine dehydrogenase, ATPase at pH 9.4 and 4.6 showed type 1 and type 2 grouping. These features were suggestive of denervation with re-innervation. Electron microscopy was not done.


Schwartz-Jampel syndrome.

Chandra SR, Issac TG, Gayathri N, Shivaram S - J Pediatr Neurosci (2015 Apr-Jun)

X-ray showing normal pelvic bones in spite of pelvis moving en bloc
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4489067&req=5

Figure 2: X-ray showing normal pelvic bones in spite of pelvis moving en bloc
Mentions: Routine blood chemistry, thyroid function tests, liver and renal function tests, serum lactate, and ammonia were within normal range. His creatine kinase was 294 units. Cardiac evaluation was normal. Tandem mass spectroscopy for metabolic diseases was normal. X-ray of the pelvis and hip was normal [Figure 2]. Nerve conduction studies, both motor and sensory were normal. Needle electromyography was done at 2 sites, right biceps and right quadriceps. The insertional activity and spontaneous activity were abundant and persistent. This consisted of discharges with variation in amplitude and frequency [Figure 3a–c]. Mild needle displacement produced bursts of activity which was associated with dive-bomber sound. When the needle was kept still, the spontaneous discharges continued. Motor unit potential could not be measured properly. There were complex repetitive discharges with uniform morphology. The baseline never became silent. Muscle magnetic resonance imaging and genetics were not done because of financial constraints. Muscle biopsy was done from the left biceps. Paraffin and cryosections showed skeletal muscle tissue with preserved fascicular architecture. The fibers were polygonal with few atrophic and angulated fibers. Focal grouped nuclei and regenerating fibers were seen. Modified Gomori's trichrome stain did not reveal any abnormality. Succinyl dehydrogenase, nicotinamide adenine dehydrogenase, ATPase at pH 9.4 and 4.6 showed type 1 and type 2 grouping. These features were suggestive of denervation with re-innervation. Electron microscopy was not done.

Bottom Line: Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features.Diagnosis is made by awareness into the typical phenotypic characters.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

ABSTRACT
Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters.

No MeSH data available.


Related in: MedlinePlus