Clinical, Radiological, Pathological and Ocular findings in Glutaric Aciduria Type 1
Glutaric aciduria type 1 (GA-1) is an autosomal recessive inborn error of lysine, hydroxylysine and tryptophan metabolism that results from a deficiency of glutaryl-CoA dehydrogenase. The diagnosis of GA-1 is made by the presence of increased urinary glutaric acid and 3-hydroxyglutaric acid and is confirmed by a deficiency or absence of glutaryl-CoA dehydrogenase in cultured fibroblasts. Because the levels of urine glutaric acid and 3-hydroxyglutaric acid may be normal or only slightly elevated especially when the patient is clinically stable, glutaryl-CoA dehydrogenase should be measured whenever GA-1 is strongly suspected from clinical and/or radiological findings. Some centers also perform newborn screening with tandem mass spectroscopy for inborn errors of metabolism including glutaric aciduria type 1.
Metabolic disorders are often considered as a differential diagnosis in abusive head trauma. Glutaric aciduria type 1, in particular, is mentioned because of the presence of subdural effusions on imaging in this disorder. As illustrated in this review, however, clinical course, imaging studies and the appropriate tests can differentiate these two entities.
The clinical and radiological features in glutaric aciduria type 1 have been discussed in the literature mostly in reports that emphasize the biochemical findings. This review does not cover every case of glutaric aciduria type 1 that has been reported in the literature, but highlights case reports and prospective or retrospective reviews that illustrate important and interesting clinical, radiological and pathological findings.
The articles reviewed are divided into prospective/retrospective studies, case studies and general articles. A total of 180 patients with glutaric aciduria type 1 are discussed in this review. There were 14 papers that presented case reports of 38 patients and 4 retrospective or prospective articles that discussed a total of 142 patients. Common clinical and neuroimaging findings are discussed here, followed by a review of each article.
A prominent clinical feature of infants and children with glutaric aciduria type 1 is macrocephaly. Hoffman et al. found that 70% of the patients with GA-1 studied had either macrocephaly or increasing head circumference past the 97th percentile. There were few asymptomatic infants or children in this review. Most had characteristic symptoms ranging from subtle neurologic signs in infancy (irritability or hypotonia), to dystonia, choreoathetosis, loss of milestones and seizures.
Common features on neuroimaging include increased spaces anterior to the frontotemporal lobes (vs. frontotemporal atrophy). This was described in 27/38 case reports. Widened or enlarged sylvian fissures is a finding that is also commonly seen.
Subdural fluid collections are described in 7/38 case reports; in at least one of these reports, the authors question whether non-accidental trauma occurred in a child with glutaric aciduria type 1, and in 3 cases, the subdural was identified after reportedly trivial injuries: being dropped against a wall or falling down steps. Hoffman et al. reports that 20-30% of patients had "chronic" subdural effusions and hematomas identified on neuroimaging studies.
Basal ganglia changes were discussed in 17/38 case reports, often described as an abnormal signal on MRI. White matter hypodensities were seen in 7/38 case reports.
Retinal hemorrhages were seen infrequently. Kafil et al. looked at the ophthalmologic findings in 15 patients with glutaric aciduria type 1. Only one patient had intraretinal hemorrhages and these were located in the fundus. Hartley et al. and Kohler et al. each report a case of an infant with GA-1 and retinal hemorrhages. Hartley describes a single hemorrhage as pinpoint and located in the fundus; Kohler does not describe the hemorrhages. The article by Hoffman et al. is often quoted for the incidence of retinal hemorrhages, but it is unclear from the article if the incidence of retinal hemorrhages is the same as the incidence of subdural hemorrhages (20-30%): "Additional neuroimaging findings observed in 20-30% of patients were chronic subdural effusions and hematomas. These findings were accompanied by retinal hemorrhages and in four patients were initially misinterpreted as resulting from child abuse."
GENERAL ARTICLE
Morris AAM, Hoffmann GF, Naughten ER, et al. Gluteric aciduria and suspected child abuse. Arch Dis Child. 1999;80:404-405.
Objective
General article concerning features of glutaric aciduria type 1 and recommendations for diagnosis
Features/Recommendations
- Subdural hematomas have been found in symptomatic and asymptomatic patients as early as the immediate postnatal period
- GA-1 does not cause skeletal abnormalities or predispose patients to fractures
- Subdural hematomas have not been reported in GA-1 without frontotemporal atrophy
- Recommend for diagnosis:
- urinary organic acid analysis
- measurment of blood spot glutarylcarnitine
- total and free plasma carnitine concentrations
- results should be confirmed by measuring glutaryl-CoA dehydrogenase activity in leukocytes or cultured fibroblasts.
- Biochemical investigation should be considered if the history and/or physical exam reveals features typical of GA-1 even in the absence of typical neuroradiological findings
- All guidelines should be interpreted in light of individual circumstances
- The diagnosis of GA-1 does not exclude the diagnosis of non-accidental injury
PROSPECTIVE/RETROSPECTIVE STUDIES
Kafil-Hussain NA, Monavari A, Bowell R, et al. Ocular findings in gluteric aciduria type 1. J Pediatr Ophthalmol Strabismus 2000;37:289-293.
Objective
To determine the occular abnormalities in glutaric aciduria type 1
Methods
15 children with GA-1 had eye examinations:
- Review of records of 6 children who died
- Prospective study of 9 survivors
Results
Seven patients had ocular findings:
- One patient had intraretinal hemorrhages along the inferior nasal arcade in the left fundus. Age of onset was 3 years
- Three patients had gaze palsies
- Two patients had cataracts
- One patient had bilateral early central lenticular opacities
Conclusions
- In this small patient series, almost half of the children had occular findings
- Only one patient had retinal hemorrhages which were isolated to the fundus
Forstner R, Hoffman GF, Gassner I, et al. Glutaric aciduria type I: ultrasonographic demonstration of early signs. Pediatr Radiol 1999;29:138-143.
Objective
To review the clinical and imaging findings of 6 patients with glutaric aciduria type 1.
Methods
Clinical findings were recorded
- Ultrasound was performed on all patients
- CT was performed on 4 patients
- MRI was performed on 2 patients
Results
Clinical Findings:
- All patients had macrocephaly
- 1 patient presented with neonatal seizures
- 1 patient presented with vomiting and sunset eyes
- 3 patients developed intermittent episodes of dystonia or hypotonia over the first months of life
| Imaging findings for the 6 patients (age at exam in parentheses): |
|---|
| Patient | U/S Findings | CT findings | MRI Findings |
| 1 | Prominent anterior horns and sylvian fissure enlargement (7 weeks)Progressive fronto-temporal atrophy (4.5 months) | Wide sylvian fissures, prominent interhemispheric fissures (7 weeks) | Fronto-pariental atrophy, sylvian fissures enlarged, hyperintense putamen and caudate (15 months) |
| 2 | Wide intrahemispheric fissures, sylvian fissure enlargement (7.5 months) | Periventricular white matter hypodensities, sylvian fissures enlarged, interhemispheric fissure prominent (2 months) | Not performed |
| 3 | Sylvian fissure enlargement (3 weeks) | Sylvian fissure enlargement (2 weeks) | Not performed |
| 4 | Anterior horns plump, wide interhemispheric fissure, sylvian fissure enlargement (3 weeks) | Not performed | Not performed |
| 5 | Hypoechogenic caudate nucleus (6 days) Frontal atrophy, sylvian fissure enlargement, wide anterior horns (3.5 months) | Sylvian fissure enlargement, frontal atrophy, hypodense caudate and putamen, plump ventricals (4 months) | Not performed |
| 6 | Prominent sylvian fissures (3 weeks)Frontal atrophy with wife intrahemispheric fissures and ventricals (2 months) | Not performed | Sylvian fissure enlargement, frontal atrophy, wide interhemispheric fissures, plump ventricals (5 months) |
Conclusion
- In this series of 6 patients with GA-1, the authors found abnormalities on early head ultrasound including sylvian fissure enlargement and brain tissue atrophy
- All patients had macrocephaly on exam
Hoffman GF, Athanassopoulos S, Burlina AB, et al. Clinical course, early diagnosis, treatment, and prevention of disease in Glutaryl-CoA Dehydrogenase Deficiency. Neuropediatrics 1996;27:115-123.
Objective
To discuss the early presenting signs of glutarly CoA dehydrogenase deficiency (GA-1)
Methods
A retrospective analysis of 57 patients with GA-1 separated into a symptomatic group and presymptomatic group was performed.
Results
Symptomatic group: Clinical and neuroimaging findings (36 patients)
- Macrocephaly was present at birth in 39% of symptomatic patients
- In another 31% the head circumference passed the 97th percentile during infancy
- Subtle neurological signs in infancy seen in this group included: hypotonia, irritability and jitteriness
- Neuroimaging showed frontotemporal atrophy, delayed myelination and "injury" of putamen and caudate nuclei
- 20-30% of patients had chronic subdural effusions and hematomas. "These findings were accompanied by retinal hemorrhages and in four patients were initially misinterpreted as resulting from child abuse" (Note: this is the biggest retinal hemorrhage reference in the literature to date). Retinal hemorrhages were not described
- Around 12 months of age, 75% of patients suffered an acute encephalopathic crisis. Following the crisis, children lost motor skills and had a severe dystonia and facial dyskinesias
- Most patients had a slight delay of gross motor development
- Approximately 20% of patients had seizures later in the course of disease
Presymptomatic group: (21 patients)
- 13 children were diagnosed following the diagnosis of a sibling
- 2 children were diagnosed prenatally (both had macrocephaly at birth)
- 6 children were diagnosed as part of a work-up for macrocephaly and/or subtle neurological symptoms such as hypotonia, irritability
- This group had the same neuroradiological findings as the symptomatic group except basal ganglia atrophy did not develop
Conclusion
- This larger series of patients illustrates that some of the clinical and neuroimaging findings in children with glutaric aciduria type 1 include macrocephaly, frontotemporal atrophy and subdural effusions.
Brismar J, Ozand PT. CT and MR of the brain in glutaric acidemia type 1: a review of 59 published cases and a report of 5 new patients. AJNR 1995;16:675-683.
Objective
To identify typical findings on CT or MR in patients with glutaric aciduria type 1
Methods
History and neuroimging findings were reviewed in 64 patients with GA-1 (59 previously published reports and 5 new cases)
Results
- Most striking finding is wide CSF spaces anterior to the temporal lobes and within the sylvian fissures
- Widening of the sylvian fissures was found in 48/51 patients (reported in 1988 or later) as well as in the 5 new patients reported
- Atrophy or hypoplasia of brain tissue other than the temporal lobes was present in 38 of 62 patients
- Extracerebral fluid collections other than those anterior to the temporal lobes were observed in seven patients
- Basal ganglia changes were observed in 28 of the 64 patients
- White matter changes were seen in24/49 patients (only discussed in 49 patients)
- In 38 patients the head size was commented on: 30 patients had macrocephaly
Conclusion
- Some of the more common neuroimaging findings in patients with GA-1 include widening of the sylvian fissures, widended spaces anterior to the teporal lobes, macrocephaly, white matter and basal ganglia changes and atrophy of brain tissue
CASE STUDIES
Smith WE, Millington DS, Koeberl DD, Lesser PS. Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. Pediatrics 2001;107:1184-1187.
Objective
To report a case of an infant with glutaric aciduria type 1 who presented with dystonia, hypotonia and abnormal movements
Case report
- 11 month old, developing normally, received two doses of promethazine for gastroenteritis symptoms
- Following the promethazine, had dystonic posturing and hypotonia; these symptoms did not respond to anticonvulsants or diphenhydramine
- CT at that time showed no intracranial lesions or structural abnormalities
- Continued to have intermittent abnormal movements
- Evaluation for persistent dystonia showed elevations of glutaric acid and 3-hydroxyglutaric acid, consistent with a diagnosis of GA-1
- MRI at 18 months showed abnormal signal in the putamen bilaterally but no frontotemporal atrophy
Conclusions:
- This patient did not show the typical frontotemporal atrophy on imaging but did have abnormalities in the putamen and typical clinical symptoms for GA-1
- The diagnosis was missed on the newborn screen which prompted the state to change the screening practices
Hartley LM, Khwaja OS, Verity CM. Gluteric aciduria type 1 and nonaccidental head injury. Pediatrics 2001;105 :174-176.
Objective
To present the case of an infant with glutaric aciduria type 1 and bilateral subdural hematomas
Case report
- 8 week old male was reported to have been dropped by brother against a wall
- Presented with vomiting, drowsiness and splaying of the coronal sutures
- Child had head circumference of 50%tile at birth, now over 97th%tile
- CT showed bilateral frontal subdural collections R>L and a fresh subdural hemorrhage high in the left parietal region. Diffuse low-density white matter changes in both hemispheres were also reported
- Formal ophthalmology exam revealed one pinpoint hemorrhage on the right fundus
- Skeletal survey showed periosteal reaction of the distal right radius
- Family was known to social services, and the diagnosis of non-accidental injury was made
- Exam at 6 months of age revealed a left sided preference, bilateral conductive hearing deficit, global developmental delay with macrocephaly and a diagnosis of glutaric aciduria was made by abnormal urine organic acid analysis and confirmed enzymologically
- Court proceedings against the mother were temporarily suspended but because of concerns of her abilility to maintain a safe environment, the child remained in the care of social services
Conclusion
- This case illustrates a difficulty in differentiating glutaric aciduria type 1 and non-accidental trauma
Kohler M, Hoffman GF. Subdural hematoma in a child with glutaric aciduria type 1. Pediatr Radiol 1998;28:582.
Objective
To report a case of an infant with known glutaric aciduria type 1 who suffered a subdural hemorrhage and retinal hemorrhages after reportedly falling down steps.
Case report
- 8 month old with known GA-1 (from screening because sibling has condition) was reported to have fallen down steps.
- CT showed a right frontotemporal subdural hygroma and a "fresh" subdural hematoma. Widened sylvian fissures were also seen
- Also had "fresh" retinal hemorrhages (not described) by "ophthalmoscopy"
- Skeletal scintigraphy was normal
- "Shaken baby syndrome" was suspected but could not be substantiated
- Child has had normal "progress" up to age 5 years
Conclusion
- This case illustrates a difficulty in distinguishing intentional truma from glutaric aciduria type 1
Drigo P, Piovan S, Battistella PA, et al. Macrocephaly, subarachnoid fluid collection, and glutaric aciduria type 1. J Child Neurol 1996;11:414-417.
Objective
To present 2 case reports of brothers with glutaric aciduria type 1 who had early-onset macrocephaly
Case 1:
- 5 year old boy had macrocephaly at birth, and was found to have delayed motor milestones at age 2 years.
- Initial CT showed bilaterally enlarged subarachnoid spaces in the frontotemporal region.
- At age 3 had neurologic deterioration with spastic diplegia and choreoathetosis.
- MRI at this time showed abnormal signal in the putamen.
- Had abnormal urinary excretion of glutaric acid and 3-hydroxyglutaric acid and fibroblast culture had absence of glutaryl coenzyme A dehydrogenase activity.
Case 2:
- 10 year old brother of case 1 with macrocephaly in the first few weeks of life.
- CT at that time showed frontotemporal atrophy with bilateral subdural fluid collections.
- Delay in motor milestones but normal cognitive development
- MRI at age 10 (when sibling was diagnosed) showed anterior cortical atrophy with frontotemporal subarachnoid space enlargement and altered periventricular white matter.
- Fibroblast culture had absence of glutaryl coenzyme A dehydrogenase activity.
Conclusion
- These brothers with GA-1 both had macrocephaly and frontotemporal atrophy on neuroimaging but different clinical courses
Woelfe J, Kreft B, Emons D, Haverkamp F. Subdural hemorrhage as an initial sign of gluteric aciduria type 1: a diagnostic pitfall. Pediatr Radiol 1996;26:779-781.
Objective
To present a case of an infant with macrocephaly and subdural hemorrhage and who was found to have glutaric aciduria type 1
Case report:
- Infant born with macrocephaly but developed normally until 6 months of age.
- At 6 months had poor head control and hypotonia. CT scanning at that time showed bilateral subdural hemorrhages with widening of the basal cisterns.
- At 9 months of age progressed to dystonia and loss of milestones. MRI showed subdural hemorrhages and moderately increased signal intensities of the caudate and lenticular nuclei.
- Had increased urinary excretion of glutaric acid, 3-OH-glutaric acid and glutaconic acid. Also showed deficiency of glutaric acid dehydrogenase activity.
Conclusion - This infant with glutaric aciduria type 1 had macrocephaly, abnormal neurological findings, subudural hemorrhages and other abnormalities on neuroimaging
Kimura S, Hara M, Nezu A, et al. Two cases of glutaric aciduria type I: clinical and neuropathological findings. J Neurol Sci 1994;123:38-43.
Objective
To report the clinical and neuropathological studies of two patients with glutaric aciduria type 1 who died
Case 1 - 10 month old male:
- Appropriate development until 5 months of age
- At that point began to have partial motor seizures, irritability and involuntary movements
- CT and MRI at 5 months of age showed bilateral chronic subdural hematomas and widening of sylvian fissures.
- Died at 10 months of age. Autopsy showed temporal lobe flattening, frontal lobe flattening, chronic subdural hematomas and dilated lateral ventricals.
Case 2 - 15 year old female:
- Had developmental delay with episodes of encephalopathy/coma
- At 4 years of age a CT showed widening of sylvian fissures
- MRI at age 14 years showed multicystic lesions in the subcortical white matter, abnormal signals in the basal ganglia and widening of the sylvian fissures
- Died at the age of 15; no autopsy was performed
Conclusion
- These two cases demonstrate that there is clinical and neuroimaging variability in patients with glutaric aciduria type 1
Osaka H, Kimura S, Nezu A, et al. Chronic subdural hematoma as an initial manifestation of glutaric aciduria type-1. Brain Dev. 1993;15:125-127.
Objective
To present the case of an infant who had chronic subdural hematoma as the initial imaging manifestation
Case report
- Male infant was developing normally until age 5 months
- He had a focal motor seizure at 5 months of age. At that time was hypotonic, had oral dyskinesias and dystonic posturing
- CT scanning at 6 months of age showed widening of basilar cisterns; MRI showed abnormal subdural spaces which appeared as high intensity on both T1 and T2, which suggested chronic subdural hematomas
- He had increased urinary excretion of glutaric acid and 3-hydroxyglutaric acid, and the fibroblast culture had absence of glutaryl CoA dehydrogenase activity, confirming the diagnosis of GA-1
Conclusion:
- This infant with GA-1 had MR imaging findings which the authors felt suggested a chronic subdural hematoma
Land JM, Goulder P, Johnson A, Hockaday J. Glutaric aciduria type I an atypical presentation together with some observations upon treatment and the possible cause of cerebral damage. Neuropediatrics 1992;23:322-326.
Objective
To present a case of a child with glutaric aciduria type 1 who suffered a subdural effusion following an apparently trivial head injury
Case study:
- Patient had a prenatal head ultrasound at 16 weeks gestation which was normal
- At 4 months of age had rapidly increasing head size: no abnormality on exam
- Child was reported to be developing normally until 19 months of age: at that time had an apparently trivial head injury (fell down 5-6 steps, no LOC)
- 12 hours following injury was drowsy, vomited, extensor posturing, loss of head control and speech
- CT scan at that time showed bilateral frontal and temporal atrophy, L>R; subdural collection on left; mildly dilated ventricals
- Subsequently had a right sided hemiparesis, choreoathetoid movements, then generalized hypotonia
- Repeat CT scan six weeks later showed enlargement of subdural collection and increased dilitation of ventricals
- Had several blood and urine amino and organic acid analyses by high performance liquid chromatography and they were all normal
- During an acute illness, abnormal concentrations of glutaric acids were demonstrated by chromatography
- CT scan at 29 months showed extensive white matter hypodensities and increased dilitation of ventricular system
- Diagnosis of GA-I was confimed enzymologically
Conclusions
- This case report illustrates an infant with typical clinical and radiographic features of glutaric aciduria type I
- This case also demonstrates that blood and urine amino and organic acid analyses can be falsely negative for GA-1
Mandel H, Braun J, El-Peleg O, et al. Glutearic aciduria type 1 Brain CT features and a diagnostic pitfall. Neuroradiology 1991;33:75-78.
Objective
To describe the serial CT findings in an infant with glutaric aciduria type 1
Case report
- 6 month old male presents with sudden onset of hypotonia and dystonic movements following a URI
- CT showed symmetrical CSF collections over the frontal lobes and widening of the basal cisterns
- CT also showed regression of the temporal lobes and marked dilitation of the Sylvian fissures (giving a "bat-wing" formation)
- There was diffuse hypodensity of the basal ganglia that was localized to the lenticular nuclei
- A CT performed 3 months earlier (for macrocrania) showed all of these findings except for the basal ganglia hypodensities
- Cultured skin fibroblasts showed a deficiency of glutaryl-CoA-dehydrogenase, confirming the diagnosis of glutaric aciduria type 1
Conclusions
- The fact that the radiographic findings were present 3 months before the onset of clinical symptoms indicates that the metabolic defect can affect the brain before the onset of clinical symptoms
Haworth JC, Booth FA, Chudley AE, et al. Phenotypic variability in glutaric aciduria type 1: Report of fourteen cases in five Canadian Indian kindreds. J Pediatr 1991;118:52-58.
Objective
To describes 14 patients with glutaric aciduria type 1 who had clinical variability of the disease
Methods
Details of 14 patients with GA-1 from 5 families are discussed
Results
- Initial clinical signs included: seizures, hypotonia, developmental delay, spasticity, quadriplegia, opisthotonus, macrocephaly
- Age at onset of clinical signs ranged from birth-7 ½ years
- CT was done in 12 patients and findings were abnormal in 11:
- 11 patients had enlarged cerebral spinal fluid spaces anterior to foreshortened temporal lobes
- 8 patients had atrophy of the putamen and lateral aspect of the caudate head
- 2 patients had enlarged cerebral spinal fluid spaces and sulcal separation over the frontal and temporal lobes and ventriculomegaly
- 1 patient had decreased attenuation of the cerebral white matter
Conclusion
- Many of the patients in this series had similar neuroimaging findings despite having clinical variability
Hald JK, Nakstad PH, Skjeldal OH, Stromme P. Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type I. AJNR 1991;12:407-409.
Objective
To present the neuroimaging findings in 5 cases of children with glutaric aciduria type 1
Methods
Five children known to have glutaric aciduria type I were imaged with CT; two children also had MRI imaging.
Results
| Patient(age at diagnosis) | CT Findings | MRI Findings | Neurological Deficits |
|---|
1
(2 years) | Slight ventricular enlargement; bilateral fluid collections at the tip of temporal lobes; subdural hemorrhages | | Died |
2
(2 days) | Slight ventricular enlargement; bilateral fluid collections at the tip of temporal lobes (R>L) | Fluid collections of the temporal regions | "Slight" |
3
(13 months) | Slight ventricular enlargement; bilateral fluid collections at the tip of temporal lobes; subdural hemorrhages | | "Moderate" |
4
(11 years) | Slight ventricular enlargement; diffusely reduced attenuation of white matter in cerebral hemispheres; bilateral fluid collections at the tip of temporal lobes | | "Severe" |
5
(8 months) | Slight ventricular enlargement | Normal | "Severe" |
Conclusions:
- Four of the five children with GA-I in the series had bilateral temporal lobe fluid collections on CT imaging
Yager JY, McClarty BM, Seshia SS. CT-scan findings in an infant with glutaric aciduria type I. Dev Med Child Neurol 1988;30:808-820.
Objective
To illustrate a CT scan finding in an infant with glutaric aciduria type 1
Case report
- Infant presents at 3 weeks of age with enlarging head; also mildly hypertonic on exam
- Urine organic acid analysis revealed an increase in glutaric acid and 3-hydroxglutaric acid, consistent with a diagnosis of GA-1
- CT at 3 weeks of age showed ventricular dilitation and attenuation of cerebral white matter
- CT at 5 and 10 months of age showed atrophy of frontal and temporal lobes; slight atrophy of caudate and putamen; loss of white matter volume
Conclusions:
- This case illustrates another finding on CT in a child with GA-I: diffuse attenuation of cerebral white matter, as well as frontotemporal atrophy
Amir N, El-Peleg O, Shalev RS, Christensen E. Glutaric aciduria type I: Clinical heterogeneity and neuroradiologic features. Neurology 1987;37:1654-1657.
Objective
To present four cases of glutaric aciduria type I:
- Two children developed the typical clinical manifestations.
- Two children (the siblings of the first two) remain symptom free.
Case 1:
- Developed normally until 6 months of age when he had an acute encephalities-like illness
- Was hypotonic with hyperactive DTRs
- CT showed marked atrophy of the frontotemporal regions bilaterally with enlargement of both frontal horns and loss of caudate nuclei
Case 2:
- Sibling of case 1
- Initial CT at age 1 month showed diffuse white matter hypodensity with no cortical atrophy
- Repeat CT at age 6 months showed bilateral frontotemporal atrophy
- Slightly delayed motor development only (at 12 months of age)
Case 3:
- At 4 months of age had an encephalitis-like illness
- At that time was found to have macrocephaly, hypotonia and dystonic posturing
- CT showed marked bilateral frontotemporal atrophy, symmetric ventricular enlargement with loss of caudate nuclei
- Neurologic and CT findings were unchanged at 24 months of life
Case 4:
- 10 year old brother of patient 3
- Has a slight language delay but otherwise normal neurological status
- CT at age 10 years shows bilateral frontotemporal atrophy and mild ventricular enlargement
Conclusion:
- All four children in this series had similar findings on CT of frontotemporal atrophy, although they have clinical heterogeneity (two have typical symptoms and two are asymptomatic)
Aicardi J, Goutieres F, Saudubray JM, Ogier H. CT scans of infants with gluteric aciduria. Dev Med Child Neurol 1985;27:403-404.
Objective
Letter that discusses CT findings of three patients with glutaric aciduria type 1
Results
On CT scan, all patients had:
- Dilitation of cerebral venticals and widening of cortical sulci
- Areas of white matter hypodensities around the frontal and occipital horns (two patients)
- Small round area of increased density in the posterior left thalemus
Conclusion:
- This letter identifies similar CT findings in 3 patients with GA-1
