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PPM-X: (Psychosis-Pyramidal Signs-Macroorchidism Syndrome) 

PPM-X: (Psychosis-Pyramidal Signs-Macroorchidism Syndrome)
Chapter:
PPM-X: (Psychosis-Pyramidal Signs-Macroorchidism Syndrome)
Author(s):

Roger E. Stevenson

, Charles E. Schwartz

, and R. Curtis Rogers

DOI:
10.1093/med/9780199811793.003.0096
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OMIM 300055

Xq28

MECP2

Definition.

XLID with macroorchidism, pyramidal signs, and manic-depressive psychosis.

Somatic Features.

The craniofacies appear normal and head size is normal. Several males have had short stature. Macroorchidism is consistently present. Neuropsychiatric features predominate with onset in childhood. Manic and depressive episodes were periodically imposed on a background of hyperreflexia or spastic paraplegia, tremors, and Parkinsonian features.

Growth and Development.

Prenatal growth is normal, but adult stature is short in some individuals. Cephalic growth is normal.

Cognitive Function.

Moderate impairment

Neurological Findings.

Increased muscle tone, hyperreflexia, Babinski signs, stiffness, stooped posture, shuffling gait, and resting tremors may be noted as early as age 10 years. Episodes of depression (despondency, weepiness, fearfulness, poor appetite, sleep disturbances) and episodes of irritability, overactivity, aggressiveness, insomnia, and talkativeness punctuated late childhood and adult life. A contribution of neuroleptic medications to the neurological findings was possible in some cases.

Heterozygote Expression.

Female carriers have below average intelligence.

Imaging.

Not known

Comment.

Macroorchidism occurs in a limited number of XLID syndromes, specifically XLID-Macrocephaly-Macroorchidism, Fragile X, Clark-Baraitser, and PPM-X syndromes. In the family reported by Atkin-Flaitz, macroorchidism occurred in affected and nonaffected males. Spasticity, Parkinsonian signs, and psychosis do not typically occur in any of these XLID-macroorchidism syndromes, with the exception of PPM-X.

PPM-X Syndrome. Normal facial appearance in affected males at ages 11, 12, 25, 38, 39, and 41 years (A–F). Courtesy of Dr. Susan Lindsay, University of Newcastle upon Tyne, Newcastle upon Tyne, UK.

PPM-X Syndrome. Normal facial appearance in affected males at ages 11, 12, 25, 38, 39, and 41 years (A–F). Courtesy of Dr. Susan Lindsay, University of Newcastle upon Tyne, Newcastle upon Tyne, UK.

References

Klauck SM, Lindsay S, Beyer KS, et al.: A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am J Hum Genet 70:1034, 2002.Find this resource:

    Lindsay S, Splitt M, Edney S, et al.: PPM-X: A new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. Am J Hum Genet 58:1120, 1996.Find this resource:

      Differential Matrix

      Syndrome

      Macroorchidism

      Spasticity

      Tremors or Rigidity

      Comments

      PPM-X

      +

      +

      +

      Psychosis, Parkinsonian features

      Gustavson

      0

      +

      +

      Microcephaly, short stature, optic atrophy with blindness, large ears, deafness, joint contractures, rockerbottom feet, brain undergrowth, hydrocephaly, cerebellar hypoplasia, seizures

      Lesch-Nyhan

      0

      +

      +

      Choreoathetosis, self-mutilation, hyperuricemia

      Pelizaeus-Merzbacher

      0

      +

      +

      Optic atrophy, nystagmus, hypotonia, ataxia, dystonia, CNS dysmyelination

      Pettigrew

      0

      +

      +

      Dandy-Walker malformation, microcephaly or hydrocephaly, long face with macrostomia and prognathism, small testes, contractures, choreoathetosis, iron deposits in basal ganglia, seizures

      Waisman-Laxova

      0

      +

      +

      Macrocephaly, strabismus

      XLID-Spastic Paraplegia-Athetosis

      0

      +

      +

      Nystagmus, weakness, dysarthria, muscle wasting, contractures