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PubMed1993

Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat.

High-resolution chromosome banding and in situ hybridization with combined cosmid and alphoid sequence probes were used to delineate a very small reciprocal translocation in a mother and her two children. The first child has a 46,XX,der(4)t(4;5)(p16.3;p15.3)mat and thus has a deletion of 4p16.3-->pter and a duplication of 5p15.3-->pter (most likely 5p15.31-->pter). Clinical findings include marked growth retardation, developmental delay, seizure disorder, microcephaly, unruly hair, broad nasal tip, downturned mouth, narrow palate, 11 pairs of ribs, mild right club foot, and a deep sacral dimple. Thus, this child has only a few non-specific manifestations of Wolf-Hirschhorn syndrome. The second child has a 46,XY,der(5)t(4;5)(p16.3;p15.3)mat; thus a deletion of 5p15.3-->pter and a duplication of 4p16.3-->pter. He has failure to thrive, developmental delay, microcephaly, sparse hair, horizontal nystagmus, short upturned nose with flared nostrils, thin lips with overhanging upper lip, long fingers and toes, and hypertonicity. Findings in the second patient are not suggestive of cri du chat syndrome (del 5p). The mother is phenotypically normal. This translocation will be useful in mapping genes and markers on the 4p and 5p chromosomal regions.

Abnormalities, Multiple↗

PubMed2006

Early developmental characteristics and features of major depressive disorder among child psychiatric patients in Hungary.

OBJECTIVE: We investigate the relations of early atypical characteristics (perinatal problems, developmental delay, and difficult temperament) and onset-age (as well as severity of) first major depressive disorder (MDD) and first internalizing disorder in a clinical sample of depressed children in Hungary. METHOD: Participants were 371 children (ages 7-14) with MDD, and their biological mothers, recruited through multiple clinical sites. Diagnoses (via DSM-IV criteria) and onset dates of disorders were finalized "best estimate" psychiatrists, and based on multiple information sources. Mothers provided developmental data in a structured interview. RESULTS: Difficult temperament predicted earlier onset of MDD and first internalizing disorder, but its effect was ameliorated if the family was intact during early childhood. Further, the importance of difficult temperament decreased as a function of time. Perinatal problems and developmental delay did not impact onset ages of disorders, and none of the early childhood characteristics associated with MDD episode severity. CONCLUSIONS: Children with MDD may have added disadvantage of earlier onset if they had a difficult temperament in infancy. Because early temperament mirrors physiological reactivity and regulatory capacity, it can affect various areas of functioning related to psychopathology. Early caregiver stability may attenuate some adverse effects of difficult infant temperament.

Adolescent↗

PubMed2002

Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections.

A sister and brother with Vici syndrome are described. They both had oculocutaneous albinism, agenesis of the corpus callosum, cataracts, and cardiomyopathy. They were born to healthy unrelated parents, and had postnatal growth retardation, profound developmental delay, hypotonia, and cataracts. The sister had recurrent infections, and died of progressive heart failure at age 19 months. The brother is alive at age six months with mild cardiomyopathy, and had a single episode of acute bronchitis at age three months. Review of the clinical manifestations of the sibs we described and six children reported in the literature indicates that Vici syndrome is a distinct clinical entity. Its main clinical manifestations include growth retardation, profound developmental delay, hypotonia, albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, and recurrent infections. The occurrence of the syndrome in three pairs of sibs of both sexes born to unaffected parents supports autosomal recessive inheritance.

Abnormalities, Multiple↗

PubMed1996

Mitochondrial DNA depletion: prevalence in a pediatric population referred for neurologic evaluation.

Mitochondrial DNA depletion is a quantitative disorder of mtDNA, characterized by tissue-specific reductions in mtDNA copy number, that presents in infancy or early childhood. It is most likely transmitted as an autosomal recessive trait, although about half of the described cases are sporadic. To estimate its prevalence we measured relative mtDNA copy number (mtDNA: 18S rDNA ratio) by Southern blot analysis in muscle biopsy samples from all children with compatible histories referred between 1983 and 1994. Of the 304 biopsies evaluated, 54 met the study criteria. We found 6 patients (2 male, 4 female) with mtDNA depletion (relative mtDNA copy number 7.9-33.2% of control). Their clinical course and findings were heterogeneous, however all but one manifested weakness, hypotonia, and developmental delay. Clinical severity was not obviously related to the degree of mtDNA depletion. No patient had ragged-red fibers, although 2 had a lipid storage myopathy. Immunofluorescence with antibodies to double-stranded DNA, COX IV, and COX II demonstrated homogeneously reduced reactivity to all three antibodies compared with control. mtDNA depletion may be a relatively common neurogenetic disorder of infancy and early childhood and should be considered in children with unexplained weakness, hypotonia, or developmental delay.

Biopsy↗

PubMed2004

Ocular and nonocular findings in patients with aniridia.

BACKGROUND: Aniridia typically appears as a familial condition with autosomal dominant inheritance but can present as an isolated disease or sporadically in association with several syndromes. In this report we describe the various ocular manifestations of aniridia as well as the association of familial aniridia with two different ocular and systemic abnormalities present across three generations in two different families. METHODS: Descriptive case series of 33 patients (66 eyes) with aniridia. A full eye examination was performed at the beginning of the study, including past medical history, family history and type of inheritance, assessment for fixation pattern and presence of nystagmus, visual acuity testing, refraction, slit-lamp examination, gonioscopy, fundus examination with pupil dilation and anterior segment photography; additional glaucoma testing was done if the patient had high intraocular pressure. Patients were followed for at least 2 years. The interval between follow-up visits, which included gonioscopy and fundus examination with pupil dilation, depended on the findings in each case. A urology consultation was requested in all sporadic aniridia cases; consultations in psychiatry and gynecology were requested on the basis of the medical history or clinical suspicion during the ophthalmologic examination. RESULTS: Ten patients (30%) had sporadic aniridia, with no previous family history; Wilms' tumour did not develop in any of them during the follow-up period. In the autosomal dominant group, ocular and systemic findings present in combination with aniridia were observed in 20 patients in the two families. Family I had aniridia and developmental delay or behavioural disorders in three generations as well as high myopia (greater than 6.00 dioptres) in all affected adults. Family 2 presented a wide phenotypic variability of aniridia with myopia in three generations. Open-angle glaucoma developed in three young adults in this family, and two members were found to have gynecologic abnormalities (hypoplastic uterus and imperforate vagina). Myopia was the most prevalent refractive error (64%) in the 33 patients. Refractive correction significantly improved the visual acuity in half of these cases. Glaucoma was present in 10 patients (30%) and was the main cause of vision loss, provoking blindness in two cases (6%). Affected patients manifested progressive angle closure or presented with open-angle glaucoma. INTERPRETATION: Ophthalmologists should consider aniridia in patients with unusual iris malformations. Examination of family members may be key in making the diagnosis. Any refractive error should be corrected, as this may improve vision. All aniridic patients should be screened regularly for glaucoma, as this condition may occur at any age and can lead to permanent vision loss. Systemic and ocular associations should be considered as they may present in combination with anirida. In our series, developmental delay or behavioural disorders and myopia were associated conditions.

Adolescent↗

PubMed1989

Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.

Eighteen girls with Aicardi syndrome were identified through a survey of neurologists, geneticists, and ophthalmologists. All had infantile seizures, developmental delay, agenesis of the corpus callosum (complete: 72%, partial: 28%), and characteristic chorioretinal lacunar lesions. Costovertebral defects including hemivertebrae, scoliosis, and absent or malformed ribs were present in 39%, cortical heterotopias were present in 50%, and microphthalmia was identified in a third. Cytogenetic investigation was carried out in all families. An unbalanced X;3 translocation, 46,X,der(X)t(X;3)(p22.3;p23)mat, was discovered in a girl with chorioretinal lacunar lesions characteristic of Aicardi syndrome, developmental delay, and infantile seizures. However, this child had a normal appearing corpus callosum on CT and magnetic resonance imaging scans and therefore did not meet the criteria for inclusion in the study. Chromosomes of all other patients and parents were normal. Findings at birth, age of seizure onset, treatment, and prognosis are discussed. The pedigree data from these 18 families demonstrated an unaffected male:female sib ratio of 1:1.7 and a 14% spontaneous abortion rate. The findings of this study support the contention that Aicardi syndrome is an X-linked dominant disorder with early embryonic lethality in hemizygous males and that all cases represent new mutations.

Abnormalities, Multiple↗

PubMed2001

Congenital disorders of glycosylation and the pediatric liver.

Congenital disorders of glycosylation (CDG) are caused by defects in protein N-glycosylation. These inherited disorders impact multiple organ systems, including the liver, its glycoprotein products, and the gastrointestinal system. Many patients have hypotonia, psychomotor retardation, developmental delay, and failure to thrive. Limited awareness of CDG and the diverse biological functions of glycosylation contribute to underdiagnosis of these disorders. Pediatric hepatologists and gastroenterologists are likely to encounter CDG patients early on in their workups. This review will discuss the clinical pictures, biochemistry, molecular defects, diagnosis, and, for one type, an effective treatment. The broad and diverse CDG presentations within and between the various types indicate that it should be considered in any case of unexplained developmental delay, hepatopathology, especially hepatic fibrosis and/or steatosis, protein-losing enteropathy, coagulopathy, hypoglycemia, and failure to thrive.

Child↗

PubMed2003

Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.

A 12-year-old boy presented with severe hypertension, congenital microcephaly, severe hearing loss, developmental delay, cryptorchidism, and bilateral pheochromocytomas, without the phenotypic features of multiple endocrine neoplasia type II syndromes (MEN-2). Sequence analysis of the polymerase chain reaction (PCR)-amplified gnomic DNA identified a missense mutation at nucleotide 451 of the von Hippel-Lindau (VHL) gene (A451G) that changes a codon for serine (AGT) to one for glycine (GGT) at amino acid position 80 (S80G). The sequence DNA analysis of the parents did not show a mutation in the VHL gene that was previously identified in their affected son. The observed constellation of microcephaly, deafness, cryptorchidism, developmental delay, hypertension, and bilateral pheochromocytoma in association with a VHL mutation A451G in a patient with negative family history has not previously been described in the literature. Knowledge that VHL mutation plays a critical role in sporadic pheochromocytoma should aid in the future diagnosis and treatment of this tumor. Genetic testing in known pheochromocytoma families is indicated to identify genetically abnormal subjects that carry the MEN-2, VHL, and glomus tumor gene mutations.

Adrenal Gland Neoplasms↗

PubMed2003

Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome.

Partial duplication of chromosome 3q is a well-described condition of multiple congenital anomalies and developmental delay that resembles the Brachmann-de Lange syndrome. Similarly, an emerging phenotype of a distal 5q deletion syndrome has recently been described. The combination of both chromosome abnormalities has not been previously described. We report on a child with both a de novo duplication of distal 3q (q27 --> qter) and terminal deletion of 5q (q35.2 --> qter). The patient had facial anomalies, hypoplastic toenails, lymphedema of the dorsum of the feet, type I Chiari malformation, a seizure disorder, and moderate developmental delays. The phenotype is compared and contrasted to the few reports of patients with similar terminal 3q duplications and 5q deletions. Our patient did not have the characteristic phenotype of the 3q duplication syndrome, suggesting that the chromosome region responsible for this phenotype is more proximal than the terminal 3q27 region. In addition, comparison with three other reported cases of terminal 5q35 deletions suggests a possible association of terminal 5q deletions with central nervous system (CNS) structural abnormalities.

Abnormalities, Multiple↗

PubMed2001

Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?

Gerodermia osteodysplastica (GO) is a connective tissue disorder characterized by premature aging, wrinkled, and lax skin with reduced elasticity which is more marked on the dorsum of the hands and feet associated with hyperextensible joints and osteoporosis. The wrinkly skin syndrome (WSS) is characterized by wrinkled skin over the dorsum of the hands, feet, and abdomen; hyperextensible joints, particularly of the hands; intrauterine growth retardation; postnatal failure to thrive; and mental and developmental delay. We report on five children from two consanguineous Arab families with features overlapping both GO and WSS. All five children had similar dysmorphic facial features consisting of broad and prominent forehead, hypotelorism with epicanthal folds, prominent bulbous nose, flat malar region, and large protruding ears. All had wrinkling of the skin more marked on the dorsum of the hands, feet, and abdomen; hyperextensibility of the joints, particularly of the hands; and aged appearance. Intrauterine growth retardation, subsequent failure to thrive, developmental delay, and variable degree of osteoporosis was also present in all of them. The older three children developed progressive prognathism. We suggest that GO and WSS could represent variable manifestation of the same disorder.

Abnormalities, Multiple↗

PubMed1997

Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients.

In 1926, Foix, Chavany and Marie described an acquired syndrome of fasciopharyngoglossomasticatory diplegia resulting from bilateral infarction of the anterior operculum. Clinical features consisted of facial diplegia, dysarthria, pseudobulbar palsy, mild to severe mental retardation, and seizures. A developmental form, similar in presentation in adults with MRI findings consisting of bilateral perisylvian cortical malformation consistent with polymicrogyria involving the sylvian fissure and opercular cortex, has been recognized; but few pediatric cases of congenital bilateral perisylvian syndrome (CBPS) have been reported. Over the past four years, we have encountered 12 cases of CBPS presenting in childhood. Age ranges were from 1 week to 11 years with a median of 2.25 years; six were less than two years of age. Seven were male and five female. Ten had bilateral perisylvian polymicrogyria on MRI; two had unilateral perisylvian schizencephaly with contralateral perisylvian polymicrogyria. Clinical manifestations included developmental delay in 7; poor palatal function in 5; hypotonia in 4; arthrogryposis in 4; hemiparesis in 3; apnea in 3; paraparesis in 2; micrognathia in 2; pectus excavatum in 2; quadriparesis in 1; and hearing loss in 1. Seizures occurred in seven (58%) and consisted of infantile spasms (n = 1), generalized tonic-clonic (n = 1), complex partial (n = 2), partial motor (n = 2; 1 with secondary generalization), and febrile convulsions (n = 1). CBPS has different manifestations in the pediatric population than in adults. CBPS is more common than previously thought, is recognizable by MRI and should be suspected clinically in any infant or child presenting with oromotor dysfunction/pseudobulbar signs and developmental delay, especially if there are associated congenital malformations. Epilepsy is not a constant feature in the pediatric presentation and is variable in type and severity.

Abnormalities, Multiple↗

PubMed2001

Mosaic trisomy of a small r(1) with an abnormal phenotype.

Cytogenetic studies of a mildly dysmorphic 10-year-old male with mild developmental delay and learning difficulties revealed mosaicism for a supernumerary ring chromosome in approximately half of the cells. The karyotype of this patient was established as 47,XY,+r[15]/46,XY[15].ish r(1)(D1Z7+,wcp1-). Although the presence of euchromatic material was shown by C banding, the lack of hybridization with the whole chromosome paint 1 (wcp1) probe suggests that few unique sequences are contained in the ring and that these sequences likely explain the child's dysmorphic features and developmental delay. A review of the literature, including the present case, suggests that the significance of euchromatin in supernumerary r(1) as determined by both C banding and fluorescence in situ hybridization (FISH) with chromosome 1 painting probes can be used as a prognostic indicator for potential severity of the clinical phenotype.

Child↗

PubMed2002

Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures.

We report the case of a 23-month-old male with hypotonia, developmental delay, and complex seizures. Radiographs revealed profound sclerosis of the metaphyses and epiphyses of the long and short bones in the extremities, with a unique pattern of distribution. Sclerosis also involved the anterior ribs, iliac crests, talus, and calcaneus. The skull and vertebral bodies appeared unaffected. Blood lead levels were normal. We believe that this constellation of clinical and radiographic abnormalities closely resembles osteosclerotic metaphyseal dysplasia (OMD) due to an autosomal recessive defect. Characteristic skeletal findings were instrumental in determining the diagnosis. OMD is a very rare sclerosing bone disorder, first described in 1993. The syndrome is characterized clinically by developmental delay of a progressive nature, hypotonia, elevated alkaline phosphatase, and late-onset spastic paraplegia. We encountered a young child with these neurologic symptoms who displayed sclerotic metaphyseal changes on hand radiographs obtained to determine the bone age. Lead poisoning, a known cause of metaphyseal sclerosis, was initially suspected. Careful analysis of the metaphyseal bone changes helped to distinguish this bone dysplasia from lead poisoning and other causes of metaphyseal sclerosis.

Abnormalities, Multiple↗

PubMed1981

Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings.

Hyperpipecolic acidemia was diagnosed in two male siblings. Both infants had an unusual constellation of clinical findings including hepatomegaly, retinopathy, developmental delay, and several minor dysmorphic features. Pipecolic acid values were elevated in serum, urine, and in liver tissue, but none was detected using an automated amino acid analyzer. The older sibling died at 18 months of age. The younger sibling has been treated with a protein-restricted diet, with lowering of the serum pipecolic acid concentration. He is alive at 18 months of age; there has been no apparent progression in his liver disease or retinopathy since therapy began, but he remains developmentally delayed.

Brain Diseases↗

PubMed2005

Incidence and prevalence of HIV encephalopathy in children with HIV infection receiving highly active anti-retroviral therapy (HAART).

OBJECTIVE: To describe neurologic outcomes in children infected with HIV in the era of highly active anti-retroviral therapy (HAART), including rates of progressive HIV encephalopathy (PHE) and clinical sequelae among PHE survivors. STUDY DESIGN: Neurobehavior and school placement was assessed prospectively in the year 2000 in 126 children infected with HIV. PHE, developmental delay, and attention deficit disorder (ADHD) were the main outcome variables analyzed. Predictors of PHE were assessed in controlled analysis among age-matched controls. RESULTS: The rate of active PHE in 2000 was 1.6% (n = 2), and the prevalence of arrested PHE was 10% (n = 13). Residual motor and cognitive sequelae and need for special education was found in the majority of survivors. PHE relapse occurred in 3 (23%) children with previously arrested PHE. Viral load (VL) was the only significant factor associated with PHE. HIV or PHE was not associated with ADHD. Isolated developmental delay was not associated with HIV. CONCLUSIONS: PHE is an infrequent and reversible complication of HIV infection that responds to HAART and that may relapse if control of the virus is lost. Children with arrested PHE show higher rates of residual neurologic, cognitive, and scholastic impairments compared with children who never had PHE. Children with arrested PHE are the group of children with HIV infection most at risk for PHE, in the form of a relapse.

AIDS Dementia Complex↗

PubMedDate not supplied

Occupational therapy effects on visual-motor skills in preschool children.

OBJECTIVE: The purpose of this study was to evaluate the assumption that preschool children who receive occupational therapy will demonstrate significant improvement in their visual-motor skills as measured on the Developmental Test of Visual-Motor Integration (VMI) and the two supplemental Visual Perception and Motor Coordination tests. METHOD: Preschool children with developmental delays (n = 12) received occupational therapy a minimum of one individual 30-minute session, and one group 30-minute session per week for 1 school year. Their performance was compared to that of two control groups; preschool students without disabilities who received occupational therapy (n = 16) for one 30-minute group session per week and students without disabilities (n = 15) who received no occupational therapy. The VMI and two supplemental tests were administered three times to each student, at the beginning, middle, and end of school year. RESULTS: Planned comparison tests showed that students with developmental delays demonstrated statistically significant improvement in visual-motor skills and developed skills at a rate faster than expected when compared to typically developing peers on the VMI. The effect size for preschool students without disabilities who received occupational therapy exceeded the effect size for the VMI and Visual Perception supplemental test for the preschool students without disabilities who received no therapy, although, the difference in the post-test performance of these two groups was not statistically significant. DISCUSSION: The results of this study demonstrate that intervention, including occupational therapy, can effectively improve visual-motor skills in preschool-aged children.

Child↗

PubMed1984

Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation.

Five children with features of Joubert's syndrome and Leber's amaurosis are described. The presenting symptoms were panting tachypnoea in the newborn, prolonged apnoeic attacks in the neonatal period (in both of identical twins), global developmental delay, and failure to develop vision. Three children had multiple hemifacial spasms, such as have been seen in Joubert's syndrome, and the same three had cystic dysplasia of the kidneys. Necropsy confirmed the retinal and renal pathology, together with agenesis of the vermis and brainstem dysgenesis in the identical twins. It is concluded that a gene for Leber's amaurosis may commonly manifest itself as the specific hind brain malformation underlying Joubert's syndrome. In infants with respiratory irregularities (especially rapid panting), hemifacial spasms, or developmental delay, absence of the cerebellar vermis should be specifically sought by ultrasound and computed tomography, and the electroretinogram measured, whether or not impaired vision is clinically evident.

Blindness↗

PubMed2003

Partial monosomy 11q and trisomy 12q: variable expression in two siblings.

Clinical and cytogenetical findings are reported and discussed on two siblings with discordant phenotypes despite having both a terminal 11q deletion and a distal 12q duplication resulting from an unbalanced segregation of a balanced translocation t(11:12)(q23:q24.1) mat. The oldest child, a girl, is the index patient. Her clinical features include intrauterine and postnatal growth retardation, fetal distress, mild hypotonia, early feeding difficulties, moderate developmental delay, especially in language acquisition, a velopharyngeal insufficiency with repeated otorhinopharyngeal infections, facial dysmorphism, heart ventricular septal defect, and abnormal hyperactive behaviour with sometimes autistic tendencies. The facial dysmorphic features notably consist of microcephaly, hypertelorism, large palpebral fissures, large eyes with alternant divergent strabismus, long eyelashes, a long and broad nasal bridge, a short "crested" nose with salient tip, a fishmouth with large spaces between teeth and flat palate, retrognathism, large ears and multiple dimples. The second affected child is a boy showing low birthweight, moderate developmental retardation with mainly no active language at 32 months, behaviour abnormalities with an autistic tendency, and no major physical anomalies apart from a slight facial hypotonia with often open mouth, dimples on the shoulders and right cryptorchidism. The authors stress the variable clinical expression of the chromosomal imbalance in this family resulting in low birthweight, developmental delay, abnormal behaviour, but different degrees of physical features and dysmorphism. The possible contribution of each of the two aneusomies to the phenotype is discussed.

Child↗