Cardiomegaly due to Chronic Hypocalcemia

PEDIATRICS ◽  
1966 ◽  
Vol 38 (5) ◽  
pp. 909-911
Author(s):  
L. ANTEBI ◽  
R. BOUCHARD ◽  
J. GUEDENEY ◽  
C. PERLES ◽  
J. WEILL
Keyword(s):  
Mental Retardation ◽  
Case History ◽  
Neonatal Period ◽  
Cardiac Insufficiency ◽  
Febrile Convulsions ◽  
Developmental Retardation ◽  
Convulsive Seizures

The occurrence of cardiomegaly as a consequence of chronic hypocalcemia is extremely rare. We have recently studied a 9-year-old child in whom cardiomegaly, coexistent with hypocalcemia, was demonstrated; there were no signs of cardiac insufficiency. Normalization of cardiac size accompanied restoration of normocalcemia. CASE HISTORY The patient was referred at the age of 8 years, 7 months because of mental retardation and convulsive seizures. The neonatal period was normal, but febrile convulsions began at 6 months of age. Convulsive episodes became more frequent and severe after 1 year of age, and developmental retardation was evident. He had daily seizures by 8 years, 7 months, was constantly agitated, and did not talk; his weight was 24 kg and his height was 122 cm.

COUNSELING PARENTS OF MENTALLY DEFICIENT CHILDREN

PEDIATRICS ◽  
1958 ◽  
Vol 22 (2) ◽  
pp. 401-408
Author(s):  
Ernest H. Watson
Keyword(s):  
Mental Retardation ◽  
Neonatal Period ◽  
Postnatal Period ◽  
Mental Development ◽  
Permanent Damage ◽  
The Third ◽  
Born Infant ◽  
Facial Expressivity ◽  
Tonic Neck Reflexes ◽  
Made In

DIAGNOSIS of mental retardation, which must precede counseling, is the responsibility of the pediatrician or family physician. In the absence of certain stigmata such as hydrocephalus, microcephaly or unmistakable signs of mongolism, the diagnosis can seldom be made in the neonatal period. The physician should have his suspicions aroused by failure of the newly born infant to suck, cry, exhibit Moro and tonic neck reflexes on proper stimulus. However, predictions based on behavior in the first days of postnatal existence are best kept in the physician's mind or, perhaps, carefully inscribed on the hospital chart. Cyanosis, twitchings on frank convulsions in the postnatal period are ominous, but not necessarily followed by permanent damage. The physician must be as certain as possible in medical prognostication before making parents aware of his fears for the future mental development of their child. As the infant progresses through the first few months of life he will give clearly discernible signs of mental development if he is normal. By the second month he should be looking at objects, and soon thereafter be able to follow a moving object with his eyes. By the third month he should respond with some facial expressivity to words, to the usual "clucking" sounds or low whistles, commonly directed at small infants. Somewhere between the second and sixth months the physician should be able to detect retarded mental development, preferably before the mother suspects anything is wrong. Dr. Watson believes that the physician should confine his opinions to himself, or a few judicious words entered on the chart, until he is quite certain of the retardation or until the mother raises the question.

SELF-MUTILATION: CASE OF A 13-YEAR-OLD GIRL

PEDIATRICS ◽  
1970 ◽  
Vol 45 (6) ◽  
pp. 1008-1011
Author(s):  
James S. Simpson ◽  
William A. Hawke
Keyword(s):  
Mental Retardation ◽  
Case History ◽  
Focal Point ◽  
Exploratory Laparotomy ◽  
Abdominal Scar ◽  
Self Mutilation ◽  
The Family ◽  
History Of

Self-mutilation, rare in children except for those suffering from schizophrenia or mental retardation, is difficult to diagnose and treat. The case history of a 13-year-old girl with bizarre abdominal complaints leading to an exploratory laparotomy and subsequent breakdown of her abdominal scar 5 months later, emphasizes some of the problems. No reason could be found for the scar separation and, after repeated and unsuccessful attempts to promote healing, we became convinced the patient was tampering with the wound. It appeared that her displacement as the focal point in the family with the remarriage of her mother and the stern discipline exhibited by her step-father motivated her to punish her parents and gain attention in this fashion.

Lesch-Nyhan Syndrome Treated from the Early Neonatal Period

PEDIATRICS ◽  
1968 ◽  
Vol 42 (2) ◽  
pp. 357-359
Author(s):  
James F. Marks ◽  
John Baum ◽  
Doman K. Keele ◽  
Jacob L. Kay ◽  
Alice MacFarlen
Keyword(s):  
Mental Retardation ◽  
Neonatal Period ◽  
Early Neonatal Period ◽  
Self Mutilation

An infant with the Lesch-Nyhan Syndrome was treated from 4 days of life with allopurinol. Such therapy was not successful in preventing the appearance of mental retardation, spasticity, and self-mutilation, which are the hallmarks of this disease.

scholarly journals West Syndrome: How Early is Early for its Presentation?

2013 ◽  
Vol 33 (3) ◽  
pp. 239-242
Author(s):  
Bikash Shrestha ◽  
Kamal Kiran ◽  
Ranjit Ghulliani
Keyword(s):  
Mental Retardation ◽  
Neonatal Period ◽  
Infantile Spasms ◽  
West Syndrome ◽  
Rare Presentation

West syndrome is the triad of mental retardation, infantile spasms and characteristic hypsarrhythmia on electroencephalograph. West syndrome usually presents in mid-infancy period. We present this as a rare presentation of West syndrome in the neonatal period. DOI: http://dx.doi.org/10.3126/jnps.v33i3.8639   J. Nepal Paediatr. Soc. 2013;33(3):239-242

Coarctation of the aorta and vein of Galen malformation – treatment considerations in a severely compromised patient

2012 ◽  
Vol 22 (5) ◽  
pp. 596-599 ◽  
Author(s):  
Mathias Emmel ◽  
Gerardus Bennink ◽  
Dan Meila ◽  
Friedhelm Brassel
Keyword(s):  
Stent Implantation ◽  
Neonatal Period ◽  
Coarctation Of The Aorta ◽  
Term Neonate ◽  
Cardiac Insufficiency ◽  
Vein Of Galen ◽  
Vein Of Galen Malformation ◽  
Endovascular Embolisation ◽  
Treatment Considerations

AbstractA vein of Galen malformation – a rare cause of cardiac insufficiency in neonates – is sometimes associated with coarctation of the aorta, two diseases requiring urgent therapy in the neonatal period. We report on a term neonate in whom we first palliated the coarctation by stent implantation, providing time to treat the vein of Galen malformation by endovascular embolisation. Following this, the coarctation was surgically repaired and the stent was explanted.

Curious Neurologic Sequelae in Galactosemia

PEDIATRICS ◽  
1984 ◽  
Vol 73 (3) ◽  
pp. 309-312 ◽  
Author(s):  
Warren Lo ◽  
Seymour Packman ◽  
Sylvia Nash ◽  
Kathleen Schmidt ◽  
Steven Ireland ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Medical Records ◽  
Neonatal Period ◽  
Metabolic Disturbances ◽  
Neurologic Disorders ◽  
The Family ◽  
Neurologic Sequelae ◽  
Transferase Deficiency ◽  
Physical Findings ◽  
Therapeutic Responses

Two siblings with classic transferase deficiency galactosemia that was detected at birth have been treated with lactose restriction since the neonatal period. Both patients developed a unique and progressive neurologic syndrome of mental retardation, tremor, and ataxia. Careful review of the family history and medical records, the absence of metabolic disturbances other than those related to galactosemia, and the aggregate physical findings and neurodiagnostic studies ruled out other neurologic disorders in these siblings. It is therefore proposed that these patients represent a subgroup of transferasedeficient galactosemic patients, who develop characteristic neurologic sequelae with conventional dietary management. The existence of this subgroup should be considered in evaluations of therapeutic responses in cohorts of patients with galactosemia. Further, galactosemia should be included in the differential diagnosis of tremor and ataxia in the setting of mental retardation.

scholarly journals Febrile Convulsions in Families

1966 ◽  
Vol 5 (10) ◽  
pp. 604-608 ◽  
Author(s):  
Stanley H. Schuman ◽  
Larry J. Miller
Keyword(s):  
Mental Retardation ◽  
Strong Relationship ◽  
Febrile Seizures ◽  
Febrile Convulsions ◽  
History Of

In a well-studied community of 3,953 individuals under 20 years of age, 142 or 3.6 per cent had a history of one or more proven febrile seizures. Certain families are more FC-prone. An unexpectedly strong relationship was found between children with febrile convulsions and sibs with mental retardation.

Phenylketonuria without Mental Retardation

PEDIATRICS ◽  
1960 ◽  
Vol 26 (3) ◽  
pp. 502-502 ◽  
Author(s):  
Harold V. Caudle
Keyword(s):  
Mental Retardation ◽  
Birth Weight ◽  
Growth And Development ◽  
Neonatal Period ◽  
Normal Pregnancy ◽  
Normal Intelligence ◽  
Untreated Child

Mental retardation has been generally considered a sine qua non of phenylketonuria (phenylpyruvic oligophrenia) but recent reports have described normal intelligence in some children so afflicted.1,2 It is the purpose of this letter to report an untreated child with phenylketonuria and above-normal intelligence. See table in the PDF file The patient, a 3½-year-old white boy, was the product of a normal pregnancy, delivery and neonatal period. His birth weight was 3,263 gm. Growth and development were normal, and at 2½ years he weighed 12.8 kg and was 91 cm tall.

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