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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The nevus sebaceus of Jadassohn (SNJ) is a congenitally-occurring, hamartomatous disorder of the skin and its adnexa of infrequent occurrence. This presentation of five cases emphasizes the smooth, waxy, yellow-brown lesion's progression into a thickened sebaceous tumor of premalignant predilection. The incidence of neoplastic degeneration of these hamartomatous nevi may be as high as 30% with the capacity of metastasis occasionally reported. Because of malignancy risks as well as cosmetic considerations, early surgical removal is recommended. Previously unreported problems of dysphagia and malnutrition secondary to pulsion diverticulum at the esophageal inlet and cleft palate, obliterative aural stenosis with associated conductive hearing loss are documented. Regardless of SNJ's occurrence as either an isolated lesion or as the fully developed syndrome, including mental retardation and epilepsy, this congenital malformation of the skin, its hair, and sebaceous glands presents rare and histologically intriguing problems for the practitioner.
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PMID:Nevus sebaceus of Jadassohn: the head and neck manifestations. 361 88

It is well known that intraventricular tumors are occasionally seen in patients with tuberous sclerosis. We have experienced two cases of tuberous sclerosis with intraventricular tumor. Case 1: an 8-year-old girl was admitted to our clinic because of headache and vomiting of one month's duration. She had adenoma sebaceum, mental retardation and seizures clinically, and a large tumor was found in the right lateral ventricle by pneumoventriculography. Partial removal of the tumor was performed by the right frontal transcortical approach, but she later died of pneumonia. Necropsy revealed hamartomatous disease characterized by multiple focal tumor-like malformations in various organs including the brain, kidneys, heart, lungs and liver. The histological diagnosis of the intraventricular tumor was subependymal giant cell astrocytoma. Case 2: a 6-year-old boy was admitted to our clinic because of headache of one year's duration. He had also suffered from seizures since 6 months of age. Adenoma sebaceum was noted in the cheeks. CT revealed a medium sized tumor at the right foramen of Monro and the moderately dilated right lateral ventricle and several calcified deposits in the lateral ventricle wall. The tumor was subtotally removed by the right frontal transcortical approach. The pathological examination showed subependymal giant cell astrocytoma. Now 6 years after the operation he is enjoying a normal school life. In our cases, intraventricular tumors associated with tuberous sclerosis were of a typically benign histological appearance, that is subependymal giant cell astrocytoma.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Tuberous sclerosis with intraventricular tumor: report of 2 cases]. 380 99

Enlarged fetal kidneys are characteristic of more than one possible diagnosis. Though infantile polycystic kidney disease is probably the most well known entity and is associated with oligohydramnios, Beckwith-Wiedemann syndrome should be considered in the differential diagnosis especially if a normal or increased amount of amniotic fluid is present. The presence of an omphalocele with a normal karyotype should also arouse suspicion. This constellation of findings carries potential morbidity including macrosomia, fetal hypoglycemia, mental retardation, microcephaly, increased risk of subsequent neoplasia, and even neonatal death. Beckwith-Wiedemann syndrome may not be obvious in the newborn period.
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PMID:Beckwith-Wiedemann syndrome: prenatal ultrasound diagnosis using standard kidney to abdominal circumference ratio. 389 53

A case of hypothalamic hamartoma with precocious puberty is presented and the literature of reported cases is reviewed. An 8-year-old boy was admitted to our hospital because of precocious puberty and mental retardation. His genital development was Tanner's stage 4 and pubic hair was Tanner's stage 3. Bone age was 11 years. Plain CT showed an isodense mass in the suprasellar cistern which was not enhanced following contrast administration. Metrizamide CT cisternography showed a filling defect in the suprasellar cistern. Endocrinological evaluation revealed high levels of serum luteinizing hormone (LH) and testosterone with a marked response of LH to LH-RH injection. A left frontotemporal craniotomy was performed and the tumor was partially removed. The tumor was gray, firm and well-circumscribed with poor vascularity. Postoperatively, a right oculomotor palsy and transient diabetes insipidus developed. He was discharged ambulatory one month later. Serum LH and testosterone returned to normal and the response of LH to LH-RH injection became normal. Hamartoma was diagnosed on histological examination. Electron micrographic study showed numerous dense granules with approximately 0.1 mu in diameter, in which Judge proved LH-RH by immunofluorescent study in 1977. Our case supports the hypothesis that hypothalamic hamartoma may cause precocious puberty by autonomous secretion of LH-RH and we consider that neurosurgical treatment is recommended.
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PMID:[Hypothalamic hamartoma with precocious puberty--a case report]. 390 Jul 84

Asymptomatic testicular enlargement is common in mentally retarded males. This enlargement includes males with non-specific forms of mental retardation as well as a subgroup of males who have a chromosomally recognizable feature involving the X-chromosome ("fragile X" chromosome). We examined the testes of a group of 25 mentally retarded males with macro-orchidism including both fragile X and non-fragile X patients. Apart from large size, the testes scanned were all normal in appearance. In particular, there was no evidence for neoplasia. There were no distinguishing features between the fragile X and the non-fragile X groups.
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PMID:High resolution ultrasound of macro-orchidism in mental retardation. 392 Feb 49

We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.
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PMID:The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 609 33

The occurrence among 13 siblings of a malformation-mental retardation syndrome and diverse malignancies was investigated for etiologic relationship by clinical, genetic, immunologic, and virologic techniques. Three sisters and their father had Saethre-Chotzen syndrome, an autosomal dominant trait with craniosynostosis and asymmetric facies. One affected sister also had nasopharyngeal carcinoma; tow nondysmorphic brothers had Hodgkin's disease, and another had seminoma with teratocarcinoma of the testis. Decreased in vitro lymphocytic proliferation to various mitogens was observed in both available siblings with tumor, one sibling with Saethre-Chotzen syndrome, and two clinically normal siblings and their father. Both parents and all siblings had normal karyotypes and no increase of antibodies to Epstein-Barr virus. The malformation syndrome and the various neoplasias segregated independently of each other and of 47 genetic markers, including histocompatibility antigens (HLA). This study illustrates an approach to defining etiology when rare disorders cluster in a family and suggests that the occurrence of malignancies in this family may be related to subclinical immune dysfunction. Whether the Saethre-Chotzen syndrome predisposed to malignancy, perhaps through impaired immunity, awaits additional observations.
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PMID:The concurrence of Saethre-Chotzen syndrome and malignancy in a family with in vitro immune dysfunction. 609 87

Three patients (two females, one male) are reported with bilateral aniridia, Wilms' tumor, more or less moderate mental retardation, decreased catalase activity, and del 11p13. These and 34 case reports from the literature are discussed with respect to: sex ratio, maternal age, type of chromosomal imbalance and frequency of associated rearrangements, prevalence of aniridia and other eye disorders, predisposition to tumor development, genitourinary anomalies, growth and mental retardation, and catalase involvement. Possible gene relationship within the complex locus and with neighbouring 11p genes is discussed.
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PMID:Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature. 609 51

A male infant had precocious puberty and hamartoma of the CNS. Signs of puberty appeared and progressed from 6 months of age. A computed tomographic scan disclosed an interpedunculary tumor. A craniotomy was successfully performed at 11/2 years of age, and 90% of the tumor was removed. Histologically, the tissue was identified as a hypothalamic hamartoma. Pubertal development stopped. The patient is now 4 years 9 months old and well. Review of medical literature covering a span of 47 years showed 50 cases of hamartomas in or near the hypothalamus confirmed by surgical exploration or autopsy. The male-female ratio of hamartomas with precocious puberty derived from these data is 2:1. Convulsions, mental retardation, or behavioral disorders were present in 48% of the cases; 36% had precocious puberty.
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PMID:Hamartoma of CNS associated with precocious puberty. 633 89

Among 341 childhood brain tumors treated at Northwestern University--Children's Memorial Hospital during the years 1967-1980, there were 39 children (11%) who presented during the first year of life. Half of the total number of childhood choroid plexus papillomas, meningeal sarcomas and teratomas we treated occurred in this particular age group. Supratentorial tumors were more common than infratentorial, a rate of 1.8:1. Medulloblastoma and benign astrocytoma were the most common histological types. Hydrocephalus was present in 82% of the children and papilledema in 28%, so that progressive enlargement of head circumference was the most common reason for referral. For the 37 patients who underwent surgical removal or biopsy of the tumor, the 1-month mortality rate was 19% and the 1-, 3- and 5-year survival rates were 46, 30 and 22%, respectively. Whenever tolerated, roentgen therapy was given. Most of the 24 deaths occurred within 6 months of the time of diagnosis. 5 patients (1 each with malignant astrocytoma, medulloblastoma, meningeal sarcoma, and 2 with choroid plexus papilloma) are still alive 5 years later, without neurological or mental deficit, and with no sign of recurrence. There were three exceptions to Collin's rule. Among the 15 survivors, 5 suffer mental retardation.
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PMID:Brain tumors during the first year of life. 660 38


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