Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings

2008 ◽  
Vol 12 (5) ◽  
pp. 290-296 ◽  
Author(s):  
A. Cao ◽  
C. Cianchetti ◽  
E. Signorini ◽  
M. Loi ◽  
G. Sanna ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Corpus Callosum ◽  
Infantile Spasms ◽  
Severe Mental Retardation ◽  
Spastic Quadriplegia

Neonatal alloimmune thrombocytopenic purpura and congenital porencephaly in two siblings associated with a "new" maternal antiplatelet antibody

Blood ◽  
1985 ◽  
Vol 65 (6) ◽  
pp. 1412-1415 ◽  
Author(s):  
JM Friedman ◽  
RH Aster
Keyword(s):  
Mental Retardation ◽  
Optic Atrophy ◽  
High Frequency ◽  
Immune Thrombocytopenia ◽  
Severe Thrombocytopenia ◽  
Severe Mental Retardation ◽  
Antiplatelet Antibody ◽  
Thrombocytopenic Purpura ◽  
Younger Child ◽  
Spastic Quadriplegia

Abstract We report a brother and sister, both of whom have porencephaly, hydrocephalus, optic atrophy, severe mental retardation, and spastic quadriplegia. In the younger child, abnormal intracranial structure was demonstrated by sonography at 32 weeks' gestation and was suspected earlier. Both children had transient severe thrombocytopenia as newborns. The mother is healthy and has never had purpura or other bleeding symptoms. However, her serum was found to react strongly with platelets from the father and from both children. The antibody in the mother's serum is platelet-specific but does not appear to be directed against any of the known antigens associated with neonatal alloimmune thrombocytopenic purpura (NATP) in other families, including PlA1, PlE2, or Baka. Although the mother's serum reacts with platelets from all 47 unrelated normal donors tested and from both the mothers and the fathers of 17 other children with suspected NATP, it does not react with her own platelets or with platelets from a patient with Glanzmann's thrombasthenia. These observations suggest that the serum from this woman identifies a previously undescribed high-frequency platelet-specific alloantigen and that sensitization to this determinant caused severe immune thrombocytopenia in both her children. It is likely that this led to intracranial hemorrhage in utero in these cases.

Partial trisomy 4q and monosomy 9p in a girl with severe mental retardation, multiple anomalies and congenital hypoglycaemia

2007 ◽  
Vol 82 (3) ◽  
pp. 239-241
Author(s):  
Anna Lauda-Świeciak ◽  
Olga Haus ◽  
Danuta Kurylak ◽  
Ewa Duszeńko ◽  
Krystyna Soszyńska
Keyword(s):  
Mental Retardation ◽  
Partial Trisomy ◽  
Severe Mental Retardation

HEAD CIRCUMFERENCE, MENTAL RETARDATION, AND GROWTH FAILURE

PEDIATRICS ◽  
1965 ◽  
Vol 36 (1) ◽  
pp. 62-66
Author(s):  
Edward J. O'Connell ◽  
Robert H. Feldt ◽  
Gunnar B. Stickler
Keyword(s):  
Mental Retardation ◽  
Head Circumference ◽  
Growth Failure ◽  
Clinical Impression ◽  
Severe Mental Retardation ◽  
Small Head ◽  
The Mean ◽  
Standard Deviations ◽  
Mental Subnormality ◽  
Age And Sex

The purpose of this study was to re-affirm our clinical impression that non-institutionalized children whose head circumference was below minus 2 standard deviations were mentally subnormal and frequently had growth failure. A group of 134 children with a head circumference below minus 2 standard deviations from the mean were studied, and all but one were mentally subnormal. The most severe mental retardation was noted in the group of children with a head circumference of minus 4 standard deviations or below. We found, as have others, that children with mental retardation have height and weights below the expected norm and that children with a head circumference below minus 2 standard deviations have even lower mean heights and weights. The head circumference of 31 children with growth failure and normal intelligence was normal for age and sex, therefore disproving the concept that the abnormally small child has a proportionally small head. In the child with growth failure, should the head be proportionally small (below minus 2 standard deviations), mental subnormality should be suspected. We feel that the head circumference measurement has taken on new clinical significance in that our data support its use in suspecting the association of mental subnormality in children with growth failure and a head circumference of below minus 2 standard deviations from the mean for age and sex.

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