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PubMed1996

Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.

BACKGROUND: Glutaryl-CoA dehydrogenase deficiency (GDD) is a recessively inherited neurometabolic disorder associated with encephalopathic crises and severe extrapyramidal symptoms. Treatment regimens including glucose and electrolyte infusions during acute illnesses, oral carnitine supplementation and/or a low-protein or lysine-restricted diet have been recommended, but their efficacy has been documented only on an anecdotal basis. SUBJECTS AND METHODS: We conducted a retrospective analysis of 57 patients with proven GDD-relating appearance and severity of neurological disease to age and clinical status at diagnosis, glutaric acid levels in body fluids, and different treatment regimens. RESULTS: Thirty-six patients were diagnosed after the onset of neurological disease (symptomatic group), twenty-one before (presymptomatic group). Carnitine levels were found to be reduced in all patients at diagnosis. In the symptomatic group, macrocephaly had been present around birth and was followed by rapid postnatal head growth in 70% of the children. The patients often showed symptoms such as hypotonia, irritability, and jitteriness followed by an acute encephalopathic crisis occurring on average at 12 months of age. Common neuroimaging findings included frontotemporal atrophy, subependymal pseudocysts, delayed myelination, basal ganglia atrophy, chronic subdural effusions and hematomas. In four patients the latter two findings were initially misinterpreted as resulting from child abuse. Other important misdiagnoses in older siblings who were affected and went undiagnosed include postencephalitic cerebral palsy, dystonic cerebral palsy and sudden infant death syndrome. Metabolic treatment did not convincingly improve the neurological disease, although it may have prevented further deterioration. Symptomatic treatment with baclofen or benzodiazepines was effective in reducing muscle spasms. Children in the presymptomatic group were diagnosed because of familiarity for the disease (n = 13), macrocephaly and/or additional minor neurological signs in infancy (n = 6), or acute encephalopathy, which was fully reversible after prompt treatment (n = 2). After diagnosis, all children were treated with oral carnitine, fluid infusion during intercurrent illnesses and, in addition, a diet was started in 13 of the 21 children. All 21 children except one (born prematurely at 31 weeks) have continued to develop normally up to now. Mean age at report is 6.3 years with a range from 6 months to 14.8 years. In older patients, the neuroradiological changes, present in infancy as in the symptomatic patients, became less prominent and in one girl disappeared. CONCLUSIONS: In presymptomatic children with GDD, the onset of neurological disease can be prevented by vigorous treatment of catabolic crises during illnesses together with carnitine supplementation. The importance of dietary therapy remains unclear and needs further evaluation. The potential treatability of GDD calls for increased attention to early presenting signs in order to recognize the disorder and to initiate treatment before the onset of irreversible neurological disease.

Adolescent↗

PubMedDate not supplied

[Extra-cerebral intracranial fluid collections in childhood: differentiation between benign subarachnoid space enlargement and subdural effusion using color-coded duplex ultrasound].

BACKGROUND: Extracerebral fluid collections in infancy are a common diagnostic problem, because by noninvasive imaging studies (including cranial ultrasonography, CT and NMR), no definite differentiation between two distinct pathological conditions can be found until today: An enlargement of the subarachnoid spaces in children with macrocephaly is a frequent observation of mostly unknown etiology but is known to be associated with a good prognosis. If surgery is necessary in these patients, ventricular shunting is required. On the other hand subdural effusions are often of traumatic origin and require frequently neurosurgical intervention (subdural shunting). Most reports on extracerebral fluid collections in infancy have not differentiated between both pathological conditions and therefore reveal confusing results. Recent studies using magnetic resonance imaging have shown that vascular flow phenomena in the arachnoid space can be used to a reliable diagnosis, whereas previous noninvasive neuroimaging attempts including high resolution computerized tomography (CT) have been useless. PATIENTS AND METHODS: We investigated a cohort of 20 patients aged 4 mths to 30 mths (mean 10.5 +/- 6.6 months) 16 with the history of macrocephaly and normal neurological development and 4 patients after head trauma and symptoms of an elevated intracranial pressure. RESULTS: In all 16 patients with the clinical diagnosis of benign subarachnoid space enlargement colour coded Doppler sonography detected archnoid vessels within the fluid collection, furthermore high resolution ultrasound demonstrated the dural border of of the arachnoidea as an echogenic membrane, an observation useful as a further sign of the subarachnoid location of the fluid collection. In the 4 patients with subdural hematoma the fluid collection showed an increased echogenity, no vascular structures and no surrounding border. CONCLUSION: Out of these observations we conclude that high resolution ultrasound and colour-Doppler sonography are able to reliably differentiate between a subdural and a subarachnoid fluid collection. An NMR investigation with its higher risks (sedation, anesthesia) focused on this target only seems therefore to be not necessary in these patients.

Blood Flow Velocity↗

PubMed1998

Serial neuroimaging studies in Sotos syndrome (cerebral gigantism syndrome).

To elucidate the mechanism of excessive size of the head in Soto syndrome, serial neuroimaging features from birth were reviewed in two patients. Macrocephaly shortly after birth was attributed to increased volume of the cerebral parenchyma itself (megalencephalon). Subsequent excessive size of the head was related to retention of cerebrospinal fluid in the ventricles and the subarachnoid spaces. Thus, macrocephaly in Sotos syndrome reflects two different mechanisms. The value of serial evaluation of intracranial structures is emphasized.

Brain↗

PubMedDate not supplied

An unusual malformation of the forebrain and concomitant destructive encephalopathy with calcifications.

A 9-year old boy with profound mental retardation and severe neurologic deficit presented an unusual malformation of the forebrain distinguished by the following features: 1) microtelencephalon, alobulation, afissuration, and abnormal convolutional pattern; 2) persistence of hippocampal formation at its embryonic site in the dorsomedial wall of the telencephalon; 3) hypoplasia and abnormal configuration of ventricles; 4) agenesis of cerebral commissures; and 5) abnormal location and orientation of gray structures. Important concomitant findings characterized by severe destructive lesions, massive calcification, granular ependymitis, and low grade inflammation were suggestive of late sequelae of an infectious process, possibly congenital. Transplacental transmission of an unidentified pathogen with teratogenic properties was hypothesized as the probable cause. The teratogenic insult started in an early embryonic period and affected primarily the development of the neopallium in the telencephalic wall. The arrested development of the neopallium disrupted the chain of interdependent developmental events; consequently characteristic morphological modifications normally induced by the continuous growth and differentiation of the neopallium failed to occur or took an abnormal course. The name architelencephalon (Greek: arche, beginning; telencephalon, cerebral hemispheres) proposed for this particular malformation of the forebrain indicates its resemblance both to the human brain at early stages of development and also to mammalian brains on a lower level of phylogeny. Associated anomalies included an unilateral microphthalmia with cataract, severe stenosis of the aqueduct of Sylvius and macrocephaly. The microphthalmia was either a developmental anomaly or was infectious in origin. The stenosis of the aqueduct was attributed to granular ependymitis. Tearing of the thin dorsal diencephalic plate and arachnoid membrane and escape of the cerebrospinal fluid into the subdural space probably accounted for the macrocephaly.

Brain↗

PubMed1996

Cesarean delivery for fetal malformations.

We reviewed existing data on fetal abnormalities to provide guidelines to determine which conditions have an improved neonatal outcome by cesarean delivery. We used Medline database to search for English language papers on a variety of fetal conditions that could influence the mode of delivery. We reviewed these sources with particular attention to how the mode of delivery influenced neonatal outcome. Conflicting data exist regarding optimal mode of delivery for many fetal conditions. Cesarean delivery may improve neonatal outcome for fetuses with isolated meningomyelocele, hydrocephalus with concomitant macrocephaly, anterior wall defects with extracorporeal liver, sacrococcygeal teratomas, hydrops, and alloimmune thrombocytopenia with low platelet count at term. Hydrocephalus without macrocephaly, anterior wall defects without an extracorporeal liver, ovarian cysts, skeletal dysplasias, fetuses whose mothers have immune thrombocytopenic puer-pura and fetuses with alloimmune thrombocytopenia with acceptable platelet counts may safely be delivered vaginally.

Cesarean Section↗

PubMed2000

MOMO syndrome: a possible third case.

This report describes a 5-year-old girl, mildly mentally retarded, with the following characteristics: macrocephaly; severe obesity; ocular abnormalities (right optic disk coloboma and left choroidal coloboma); short stature; and recurvation of the femur. The case is sporadic with no consanguinity between the parents. The condition was diagnosed tentatively as MOMO syndrome (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) (MIM, 157980), because of the presence of short stature, in contrast with the large stature of the only two previously described cases. It is the third possible example of this rare syndrome to be described in the literature, with some new clinical findings presented.

Abnormalities, Multiple↗

PubMed2002

Scoliosis in a patient with Alexander disease.

Alexander disease is a rare, degenerative disorder of the central nervous system. It is characterized clinically by spasticity, seizures, dementia, loss of developmental milestones, and macrocephaly. Here we describe a 13-year-old boy with Alexander disease and severe scoliosis. The patient initially presented at 9 months of age, with profound mental retardation and a history of seizures. When he was 7 years old, a pediatrician had diagnosed Alexander disease (hypotonia, macrocephaly, and progressive low-density white matter predominantly in the frontal region on computed tomography examination). From the age of 10, thoracolumbar scoliosis had gradually become severe. Because treatment using a corrective brace would have produced major problems because of the patient's mental retardation, the scoliosis was successfully treated surgically, by careful posterior spinal fusion with instrumentation, and an autologous iliac crest bone graft. A 64 degrees curve was corrected to 18 degrees (72% correction). Scoliosis with Alexander disease is considered to be very rare because patients with the disease seldom survive long enough to develop spinal deformities.

Central Nervous System Diseases↗

PubMed2004

Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).

Mutations in genes known to be responsible for most of the recognizable syndromes associated with bilateral coronal synostosis can be detected by molecular testing. The genetic alterations that could cause unilateral coronal synostosis are more elusive. It is recognized that FGFR and TWIST mutations can give rise to either bilateral or unilateral coronal synostosis, even in the same family. The authors undertook a prospective study of patients presenting with synostotic frontal plagiocephaly (unilateral coronal synostosis) to Children's Hospital Boston during the period from 1997 to 2000. Mutational analysis was performed on all patients and on selected parents whenever familial transmission was suspected. Intraoperative anthropometry was used in an effort to differentiate those patients in whom a mutation was detected from those in whom it was not. The anthropometric measures included bilateral sagittal orbital-globe distance, inter medial canthal distance, and nasal angulation. Macrocephaly and palpebral angulation were also considered possible determinants. There was a 2:1 female preponderance in 47 patients with synostotic frontal plagiocephaly. Mutations were found in eight of 47 patients: two patients with different single-amino-acid changes in FGFR2, three patients with FGFR3 Pro250Arg, and three patients with TWIST mutations. Another patient had craniofrontonasal syndrome for which a causative locus has been mapped to chromosome X, although molecular testing is not yet available. Two features were strongly associated with a detectable mutation in patients with synostotic frontal plagiocephaly: asymmetrical brachycephaly (retrusion of both supraorbital rims) and orbital hypertelorism. Other abnormalities in the craniofacial region and extremities were clues to a particular mutation in FGFR2, FGFR3, TWIST, or the X-linked mutation. Neither macrocephaly nor degree of nasal angulation nor relative vertical position of the lateral canthi correlated with mutational detection. An additional four patients in this study had either unilateral or bilateral coronal synostosis in an immediate relative and had anthropometric findings that predicted a mutation, and yet no genetic alteration was found. This suggests either that the authors' screening methods were not sufficiently sensitive or that perhaps there are other unknown pathogenic loci. Nevertheless, molecular testing is recommended for infants who have unilateral coronal synostosis, particularly if there are the anthropometric findings highlighted in this study or an otherwise suspicious feature in the child or a parent. Infants with either an identified or a suspected mutation usually need bilateral asymmetric advancement of the bandeau and may be more likely to require frontal revision in childhood.

Adult↗

PubMed1981

Abnormal head circumference in learning-disabled children.

The head circumferences of 73 learning-disabled children were compared with those of a matched control population of 71 children. Macrocephaly was noted in eight learning-disabled children but in only three controls, and microcephaly was present in seven learning-disabled children but in none of the controls. Abnormal head circumferences were noted in nine learning-disabled males but in only three control males. Since this study revealed an increased prevalence of both macrocephaly and microcephaly in children with learning disabilities, future studies of such children should include accurate measurements of head circumference. It may be found that abnormal head circumference, when accompanied by other signs, can be used to identify preschool children potentially at risk for learning disabilities.

Cephalometry↗

PubMed1987

Developmental prognosis for infants with benign enlargement of the subarachnoid spaces.

The development of nine infants with enlarged subarachnoid spaces identified by specific CT-scan criteria was prospectively followed to two to three years of age. Infants with intracranial hemorrhage, CNS anomaly, microcephaly or other factors of potentially major negative impact on their development were excluded. All study infants had normal or only minimally increased ventricular size and none developed hydrocephalus. Head circumference was greater than or equal to 90th percentile in all cases, and six fathers also had a head circumference greater than or equal to 90th percentile. Six infants had gross motor delay and mild hypotonia in the first year. One, born at 30 weeks gestational age, had transient dystonia. At follow-up all the infants were developing normally, apart from four with minor concerns. Infants with macrocephaly or rapid head-growth, CT-scan findings of enlarged subarachnoid spaces and normal to minimally increased ventricular size, and who have a parent with macrocephaly, have a good developmental prognosis and a characteristic pattern of neuromotor development in the first year.

Cephalometry↗

PubMed1998

Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's Hospital.

OBJECTIVE: To establish the frequency of minor disease features in children with neurofibromatosis type 1 (NF1) and to evaluate the value of minor disease features in children < or = 6 years with a suspected diagnosis of NF1, considering that the disease is virtually 100% penetrant at 6 years of age. DESIGN: During this 10 year, prospective, multidisciplinary, follow up study, 209 children suspected of having NF1 were examined; 150 were diagnosed with NF1 and 59 were not. The present analysis included children in whom NF1 was considered to be present at 6 years of age (n=85) and children without NF1 at 6 years of age (n=42). RESULTS: The minor disease features macrocephaly (52.9%), short stature (24.7%), hypertelorism (63.5%), and thorax abnormalities (37.6%) were highly prevalent in children with NF1 and significantly associated with a diagnosis of NF1 at 6 years of age. In addition, the mean number of minor disease features was significantly higher in children with NF1 at 6 years of age compared to the group without a diagnosis at 6 years of age (mean 1.8 v 0.8, p<0.001). Moreover, children with three or more minor disease features were all diagnosed with NF1 under the age of 6 years. Multivariate analysis using a logistic regression model showed that macrocephaly, short stature, hypertelorism, and thorax abnormalities were all independently associated with the presence of NF1 at 6 years of age. CONCLUSION: In children with insufficient diagnostic criteria aged < or = 6 years, documentation of minor disease features may be a helpful aid in predicting the diagnosis of NF1 in years to come.

Adolescent↗

PubMed2000

Growth in North American white children with neurofibromatosis 1 (NF1).

OBJECTIVE: To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis 1 (NF1) patients. DESIGN: Cross sectional database survey. SETTING: The National Neurofibromatosis Foundation International Database (NFDB) includes clinical information on NF1 patients from 14 participating centres in North America. SUBJECTS: A total of 569 white, North American, NF1 patients, 55% female and 45% male. MAIN OUTCOME MEASURES: Stature and OFC measurements of NF1 patients were compared to age and sex matched population norms using z score standardisation and centile curves. RESULTS: The distributions of stature and OFC are shifted and unimodal among NF1 patients; 13% of patients have short stature (>/=2 standard deviations below the population mean) and 24% have macrocephaly (OFC >/=2 standard deviations above the population mean). CONCLUSIONS: Alterations of stature and OFC are not limited to NF1 patients with frank short stature or macrocephaly.

Adolescent↗

PubMed1976

Juvenile gastrointestinal polyposis.

Two cases of juvenile gastrointestinal polyposis are described and the literature is reviewed. Despite the benign nature of the individual polyps, the disease has a poor prognosis. Of 13 reported patients, 4 had macrocephaly, and one of the authors' 2 patients had large peripheral intracranial cysts. This appears to be the first reported documentation of the etiology of macrocephaly associated with juvenile polyposis. Major clinical problems are related to severe loss of blood and protein from the gastrointestinal tract.

Female↗

PubMedDate not supplied

Intracranial navigation using a novel device for endoscope fixation and targeting: technical innovation.

Intracranial endoscopy involves point-to-point navigation: first, in the introduction of the endoscope into a cerebrospinal fluid-containing space and, second, in the identification of a target structure. We report testing and preliminary clinical use of a device for the direct cranial fixation and point-to-point neuronavigation of a rigid ventricular endoscope. An 18-month-old female child presented with rapidly progressive macrocephaly, developmental delay and left hemiparesis. Neuroimaging revealed a large suprasellar cyst and obstructive hydrocephalus. We adapted a ball-stem device with an endoscopic working channel for direct cranial fixation over a burr hole. This device was successfully used in conjunction with MR-based neuronavigation to fenestrate the cyst. Seven months after the operation her developmental delay, macrocephaly and hemiparesis resolved. This device may be particularly effective in cases of small ventricles, ambiguous intra-ventricular landmarks, and in children too young for head-holder immobilization.

Arachnoid Cysts↗

PubMed1976

X-linked hydrocephalus, with aqueductal stenosis, mental retardation, and adduction-flexion deformity of the thumbs. Report of a family.

A new family is reported of a Bickers-Adams-Edwards syndrome. This family has been studied up to three generations. Two female carriers are known. Among the six male children who are affected, four are severely mentally retarded, have spasticity of the legs, and survived with a mild macrocephaly, and two show a more severe and rapid progression of head enlargement. A partial aqueductal stenosis, with remarkable ventricular dilatation, has been demonstrated by pneumoence-phalography in three boys. A deformity of the thumbs links these six children together. One of them has been treated by a ventriculoperitoneal shunt, when 18 months old, without any improvement in the neurological condition. The mental deficiency is much more severe than could be expected from the degree of hydrocephalus, at least as estimated clinically by the macrocephaly. Hydrocephalus is precocious, and the ventricular dilatation very advanced when seen by PEG studies. Recognition of the female carriers is not possible.

Adolescent↗

PubMed1995

Reduction cranioplasty.

Reduction cranioplasty can greatly improve the quality of life for selected patients with severe macrocephaly and can significantly diminish some of the difficulties in the long-term chronic care of others. Because of differences in age, cranial morphology and surgical goals, the surgical plan must be tailored to the individual patient. Three techniques for reduction cranioplasty, with the advantages and disadvantages of each, are described. Four patients, representing the spectrum of severe macrocephaly and also the problems associated with reduction cranioplasty, are presented. Surgical indications, tactical considerations and risks are discussed.

Adolescent↗

PubMed2006

Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord.

BACKGROUND: Alexander disease is most commonly associated with macrocephaly and, on MRI, a leukoencephalopathy with frontal preponderance. The disease is caused by mutation of the GFAP gene. Clinical and MRI phenotypic variation have been increasingly recognized. METHODS: The authors studied seven patients with Alexander disease, diagnosed based on mutations in the GFAP gene, who presented unusual MRI findings. The authors reviewed clinical history, MRI abnormalities, and GFAP mutations. RESULTS: All patients had juvenile disease onset with signs of brainstem or spinal cord dysfunction. None of the patients had a macrocephaly. The MRI abnormalities were dominated by medulla and spinal cord abnormalities, either signal abnormalities or atrophy. One patient had only minor cerebral white matter abnormalities. A peculiar finding was the presence of a kind of garland along the ventricular wall in four patients. Three patients had an unusual GFAP mutation, one of which was a duplication mutation of two amino acids, and one an insertion deletion. CONCLUSION: Signal abnormalities or atrophy of the medulla or spinal cord on MRI are sufficient to warrant DNA analysis for Alexander disease. Ventricular garlands constitute a new sign of the disease. Unusual phenotypes of Alexander disease are found among patients with late onset and protracted disease course.

Adolescent↗

PubMed1993

Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is anecdotally associated with macrocephaly, hydrocephalus, basilar invagination, and cerebral atrophy, but the frequency and the spectrum of neurologic features of this condition are poorly defined. We report our experience with 76 patients with OI seen at NIH. Neuroimaging studies demonstrated sulcal prominence and ventriculomegaly consistent with communicating hydrocephalus in 17 patients. Eight individuals with severe OI types displayed basilar invagination, causing brainstem compression in three patients. Head circumference growth showed abnormal kinetics with percentile crossing after fontanelle closure in 13 patients, and absolute macrocephaly was present in 11 patients. Additional neurologic complications included skull fracture (10 individuals); seizure disorders (five); transient, unexplained long tract signs (three); and spinal compression and pontine, cervical, and thoracic syringohydromyelia (one patient each). The clinically important neurologic complications appear to be brainstem compression from basilar invagination, skull fracture, and seizure disorders. Neurologic evaluation should be part of a team approach in the management of patients with severe OI types.

Adolescent↗