DWI Hyperintensity in the Fornix Fimbria on MRI in Children.

BACKGROUND AND PURPOSE: The fornix-fimbria complex is mainly involved in emotions and memory. In brain MR imaging studies of young children, we have occasionally noted DWI hyperintensity in this region. The significance of this finding remains unclear. This study evaluated the DWI signal in the fornix-fimbria complex of children 0-2 years of age, including the frequency of signal hyperintensity and clinical context. MATERIALS AND METHODS: Brain MR imaging of 714 children 0-2 years of age (mean, 11 months), performed between September 2018 and May 2021, was reviewed and evaluated for DWI signal changes in the fornix-fimbria. All children with available MR imaging studies including DWI were included. Children with poor image quality, poor visualization of the fornix-fimbria region, and missing medical data were excluded. Additional imaging findings were also evaluated. Demographic data were retrieved from the medical files. We compared the ADC values of the fimbria and fornix between children with and without signal changes. The unpaired 2-tailed Student t test and χ2 test were used for statistical analysis. RESULTS: DWI signal hyperintensity of the Fornix-fimbria complex was noted in 53 (7.4%) children (mean age, 10 months). Their mean ADC values were significantly lower than those of the children with normal DWI findings (P < .05). About half of the children had otherwise normal MR imaging findings. When detected, the most common abnormality was parenchymal volume loss (15%). The most common indication for imaging was seizures (26.5%). CONCLUSIONS: DWI hyperintensity in the fornix-fimbria complex was detected in 7.4% of children 0-2 years of age. The etiology is not entirely clear, possibly reflecting a transient phenomenon.

Hand size and growth in untreated and IGF-I treated patients with Laron syndrome.

UNLABELLED: We have previously reported on the linear growth, growth of the head circumference and foot length in untreated and IGF-I treated patients with Laron syndrome (LS) (primary GH insensitivity). AIM: To assess the size and growth of the hands in patients with LS from early childhood to adult age. PATIENTS: Ten IGF-I treated children with LS (4 M, 6 F) and 24 untreated patients (10 M, 14 F) were studied. METHODS: Measurements of palm length were made on available standardized hand X-rays from infancy to adult age. The measurements were compared to normal references and SD values were calculated for each measurement. The growth of the hand was compared to the concomitant height of the body. RESULTS: Hand SDS in untreated patients with LS decreased with age, from a mean of -2.8 +/- 0.7 (age 1-3 years) to -7.3 +/- 0.8 (age 13-15 years) and to -9.0 +/- 3.9 (age 40-50 years). During 9 years of IGF-I treatment the hand size deficit SDS did not improve in contradistinction to the height SDS which decreased from -6.2 +/- 1.2 to -3.9 +/- 0.5. CONCLUSION: Congenital IGF-I deficiency, as in Laron syndrome, profoundly affects the size and growth of the hand as part of its growth retardation characteristics, resulting in acromicria.

Metastatic brain involvement in Ewing family of tumors in children.

OBJECTIVE: To evaluate the incidence and clinical characteristics of CNS involvement in Ewing family of tumors (EF) in children. METHODS: Chart reviews of children with EF treated in our center from 1972 to 1997. Clinical and imaging data regarding possible CNS involvement were collected. RESULTS: During this 25-year period, 80 children with EF were treated. Intracranial involvement was found in eight (10%) children: the brain was involved in seven children (8.8%) and a retro-orbital metastasis without parenchymal brain involvement was noted in one child. Metastases were localized intrahemispherically, or in the cerebellum or the basal ganglia. Intracranial spread was hematogenous in five children and by contiguous spread from the skull in three children. Intracranial involvement was diagnosed 1.3 to 11 years from initial presentation. Seizures and hemiparesis were the main neurologic complications. CONCLUSIONS: The rate of parenchymal brain involvement in our patients with EF was 8.8%. Spread was mainly hematogenous. Substantial morbidity was associated with CNS disease, which appeared in most patients late in the course of disease.

Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.

BACKGROUND: Infantile bilateral striatal necrosis (IBSN) encompasses several syndromes of bilateral symmetric, spongy degeneration of the caudate nucleus, putamen, and globus pallidus. The familial form of IBSN is rare, and inheritance is either autosomal recessive or maternal. METHOD: The authors describe an Israeli Bedouin kindred in which 15 children born to consanguineous parents were affected with familial IBSN. They evaluated the clinical and radiologic evolution of the disease in 11 patients and the cerebral pathologic findings in one patient. Three of the children were treated with oral biotin 100 mg/day. RESULTS: Inheritance was apparently autosomal recessive. The untreated children had a similar clinical picture including developmental arrest beginning at the age of 7 to 15 months, choreoathetosis, and dysphagia. Pendular nystagmus appeared at a late stage. MRI, performed at various stages of the disease, showed severe basal ganglia atrophy. Postmortem study in one patient showed severe atrophy of the lenticular nuclei with gliosis and loss of neurons. Biotin, 100 mg/day, administered to the proband over a period of 15 months, may have slowed progression. In two other children treatment was initiated earlier and appeared to arrest or improve disease. CONCLUSIONS: Familial infantile bilateral striatal necrosis was inherited as an autosomal recessive trait. Clinical features included developmental arrest, dysphagia, and choreoathetosis. Imaging and pathology showed atrophy and degeneration of the basal ganglia. Oral biotin may have benefited three children.

Autosomal recessive microcephaly with neonatal myoclonic seizures: clinical and MRI findings.

We describe an infant who was born to a consanguineous couple of Palestinian origin. The patient had severe microcephaly, myoclonic seizures, hypsarrythmia, spasticity, hypertonicity, and profound mental retardation. A similar case was reported in another unrelated Palestinian family, suggesting that this condition may be endemic. The condition resembles early onset myoclonic seizures and spasticity described by Tolmie et al.: Am J Med Genet 27:583-594 [1987]. To the best of our knowledge, only four pairs of sibs have been described with this syndrome; however, to date no magnetic resonance imaging (MRI) findings were reported for this condition. We present the clinical and radiological findings in the patients, including the first report of MRI findings.

Craniofacial and brain abnormalities in Laron syndrome (primary growth hormone insensitivity).

OBJECTIVE: To investigate abnormalities in the craniofacial structures and in the brain in patients with Laron syndrome. DESIGN: Eleven patients with classical Laron syndrome, nine untreated adults aged 36-68 years and two children aged 4 and 9 years (the latter treated by IGF-I), were studied. METHODS: Magnetic resonance images of the brain were obtained in all the patients. One patient also underwent computed tomography. The maximal diameter of the maxillary and frontal sinuses was measured and compared with reference values, the size of the sphenoid sinus was evaluated in relation to the sella, and the mastoids were evaluated qualitatively (small or normal). The brain was evaluated for congenital anomalies and parenchymal lesions. RESULTS: In the adult untreated patients, the paranasal sinuses and mastoids were small; in six patients, the bone marrow in the base of the skull was not mature. The diploe of the calvaria was thin. On computed tomography in one adult patient, the sutures were still open. A minimal or mild degree of diffuse brain parenchymal loss was seen in ten patients. One patient demonstrated a lacunar infarct and another periventricular high signals on T2-weighted images. Two patients had cerebellar atrophy. CONCLUSIONS: The present study has demonstrated the important role IGF-I plays in the development of the brain and bony structures of the cranium.

Meyer dysplasia in the differential diagnosis of hip disease in young children.

OBJECTIVES: To describe a rare developmental disorder of the femoral capital epiphysis in infants and children that is often misdiagnosed and to suggest an evaluation protocol to differentiate it from other hip problems. DESIGN: Case series. SETTING: Tertiary care center. SUBJECTS: Five consecutive patients referred for evaluation of acute onset of limping between January 1990 and December 1997. INTERVENTION: All clinical and imaging data were collected. RESULTS: Two of the 5 patients were initially diagnosed as having osteomyelitis and 3 as having Perthes disease. The diagnosis of Meyer dysplasia was confirmed by plain film of the pelvis, a negative bone scan, or normal bone marrow findings on magnetic resonance imaging. The limping resolved without treatment in all patients within 1 to 3 weeks. CONCLUSIONS: Meyer dysplasia is a benign condition that should be included in the differential diagnosis of hip disease in infants and children. Awareness of this condition may prevent unnecessary hospitalization and treatment.

MR findings in hereditary isolated growth hormone deficiency.

PURPOSE: To describe the MR characteristics by which patients with hereditary isolated growth hormone deficiency (GHD) can be distinguished from patients with other types of GHD. METHODS: A total of 51 patients with GHD were examined prospectively with MR imaging. On the basis of familial occurrence of GHD and genetic analysis, 10 patients met the criteria for hereditary deficiency. In each case, the height of the pituitary gland, the presence and location of the posterior neurohypophysis, and the completeness of the stalk were recorded. The findings in the hereditary group were compared with those in the rest of the patients. RESULTS: In all 10 patients with hereditary GHD, the adenohypophysis, the neurohypophysis, and the stalk were normal. Of the other 41 patients, the height of the gland was normal in three (7%), the neurohypophysis was abnormal in all, and the stalk was truncated in all but two patients (95%). CONCLUSIONS: The subgroup of patients with hereditary GHD exhibited an anatomically normal pituitary-hypothalamic region. This is in contrast to the majority of patients with idiopathic GHD. MR imaging can contribute to the classification of patients with GHD.

MR findings in growth hormone deficiency: correlation with severity of hypopituitarism.

BACKGROUND AND PURPOSE: Growth hormone deficiency may present as an isolated deficit (IGHD) or in association with multiple deficiencies (MPHD). Previous studies have not compared the MR imaging findings with the severity of hypopituitarism. Our purpose was to determine whether MR imaging can distinguish between IGHD and MPHD. METHODS: Forty-four patients with growth hormone deficiency who were examined by MR imaging were included in this retrospective study. On the basis of the endocrinologic findings, 21 were determined to have IGHD and 23 to have MPHD. The presence, size, location, and morphologic characteristics of the stalk, the neurohypophysis, and the adenohypophysis were recorded in each case. Findings in the two groups were compared. Statistical significance was determined by t-test. RESULTS: The stalk was normal in one patient with IGHD and in none of those with MPHD; it was truncated or thin in 19 patients with IGHD (90%) and in only one with MPHD (4%); it was absent in 22 patients with MPHD (96%) and in only one patient with IGHD (5%). These differences between the two groups were highly significant. In 81% of the IGHD patients and in 91% of the MPHD patients the location of the neurohypophysis was ectopic. This difference between the two groups was not significant. Among IGHD patients, the adenohypophysis was of normal size in 13 patients (62%), small in six (29%), and absent in two (9%); the corresponding findings in MPHD patients were seven (30%), six (26%), and 10 (44%). CONCLUSION: The majority of IGHD patients had a truncated or thin stalk and a normal or small adenohypophysis. An absent stalk and adenohypophysis are characteristic of MPHD. MR imaging can contribute to the prediction of the pattern and severity of hypopituitarism in patients with growth hormone deficiency.

CT and MR evaluation of the brain in patients with anorexia nervosa.

Thirteen adolescent girls with anorexia nervosa had MR imaging of the brain; 11 were also examined by CT. Fifteen children, ages 10-12 years, served as a control group. The CT and MR studies were evaluated qualitatively for cortical and central atrophic changes. CT detected sulcal and ventricular enlargement in 5/11 patients. On the MR images, enlarged sulci were seen in 10/13 and dilated ventricles in 5/13. In the anorectic patients, the range of the width of the third ventricle was 1-5 mm (mean, 3.2 mm) and the maximal distance between the anterior horns was 22.5-39.0 mm (mean, 30.0 mm). Anterior horns at their minimal width measured 11-30 mm (mean, 16.5 mm). The corresponding measurements in the control group were 1.5-3.5 mm (mean, 2.3 mm) for the third ventricle, 21-35 mm (mean, 28.5 mm) for the distance between the anterior horns, and 10-16 mm (mean, 12.8 mm) for their minimal width. Overall, the patient group had larger ventricles than the control group; however, the difference between the two groups was not significant. Measurement of the number of visible cortical sulci at one cut below the vertex yielded 2-11 sulci in the anorectic girls (mean, 6.6) versus 0-6 sulci (mean, 3.3) in the controls. These results are statistically significant (p = .0009), indicating peripheral volume loss in the anorectic patients. The MR examination did not reveal any additional structural or parenchymal changes when compared with the results of the CT studies. However, the pituitary glands of these patients did not have the expected normal pubertal hypertrophy on the MR examinations.(ABSTRACT TRUNCATED AT 250 WORDS)

Optic pathway glioma: correlation of imaging findings with the presence of neurofibromatosis.

BACKGROUND AND PURPOSE: Despite the benign histology of optic pathway glioma (OPG) (low-grade astrocytoma), its biological behavior is unpredictable, and it is unclear whether specific morphologic or anatomic patterns may be predictive of prognosis. It is also unclear whether OPG associated with neurofibromatosis (NF) is a distinct entity from non-NF-OPG. Our purpose was to describe the MR imaging features of OPG, compare the findings between patients with and those without NF, and identify prognostic imaging signs. METHODS: MR examinations of 91 patients with OPG (47 with NF and 44 without) were reviewed at presentation and during follow-up. The images were evaluated for size and extension of tumor, and imaging parameters. Statistical bivariate analysis was used to compare the patients with and those without NF, and Pearson correlation was used to evaluate the correlation between the different imaging parameters and prognosis. Kappa values were calculated to determine intraobserver and interobserver variability. RESULTS: The most common site of involvement in the NF group was the orbital nerve (66%), followed by the chiasm (62%). In the non-NF group, the chiasm was the most common site of involvement (91%); the orbital nerves were involved in only 32%. Extension beyond the optic pathway at diagnosis was uncommon in the NF group (2%) but frequent in the non-NF group (68%). In the NF group, the tumor was smaller and the original shape of the optic pathways was preserved (91% vs. 27% in the non-NF group). The presence of cystic components was significantly more common in the non-NF patients (66% vs. 9% in the NF group). During follow-up, half the NF patients remained stable, in contrast to 5% of the non-NF group. No statistical correlation was found between imaging features and biological behavior of the tumor. CONCLUSION: NF-OPG is a separate entity from non-NF-OPG, with different imaging features and prognosis, thereby warranting a specific diagnostic, clinical, and therapeutic approach.

Severe allergic bronchopulmonary aspergillosis in an infant with cystic fibrosis and her asthmatic father.

An infant with cystic fibrosis and her asthmatic father were diagnosed as suffering from allergic bronchopulmonary aspergillosis (ABPA). Cystic fibrosis was diagnosed in the infant at 6 weeks of age, and gene mutations were W1282X/G542X. She was diagnosed definitively as suffering from ABPA at age 3.5 years, but had suggestive symptoms from age 11 months. This may be the youngest age described to date for ABPA. The child responded well to systemic steroid therapy, but remained steroid-dependent over the next 4 years. Treatment with itraconazole enabled a marked reduction in steroid dosage. The father was an asthmatic, and a heterozygote for the cystic fibrosis transmembrane regulator (CFTR) mutation W1282X. He had a normal sweat test, atopy, and moderate reversible airway obstruction. There was no proven exposure to Aspergillus in the home environment. The importance of considering the diagnosis of ABPA even in infancy, the therapeutic dilemmas, and the possible role of abnormal CFTR function in the development of ABPA are discussed.

Postingestive chemosensation and feeding by leeches.

Distinct chemical cues acting on chemosensory structures on the dorsal lip of bloodsucking leeches activate the entire complement of appetitive and ingestive feeding behaviors. However, it is not known whether the maintenance of ingestion depends on continuous stimulation of these peripheral chemosensors. Leeches of the species Hirudo medicinalis and Macrobdella decora were fed for 2 min on an artificial blood solution containing 150 mM NaCl/1 mM arginine before switching the feeding solution to various experimental mixtures. Leeches did not start to feed on, but continued to ingest solutions in which equiosmolar KCl or lysine substituted for NaCl or arginine, respectively, until sated. In contrast, they rejected water and dropped off the feeding apparatus within 30 s of the exchange. Leeches also detached from the feeding tube when quinine, denatonium, or caffeine were added to the NaCl/arginine solution during an ongoing feeding bout. The duration of ingestion following the switch correlated inversely with the concentration of the drugs (0.1-10 mM). Superfusion of the dorsal lip with high concentrations of the bitter chemicals, while feeding was in progress, had no effect on the duration of ingestion. However, injections of the bitter substances directly into the gut, during a feeding bout, abruptly stopped ingestion. The results suggest that while leeches continue to sample their food once ingestion has begun, secondary chemosensory mechanisms situated downstream from the dorsal lip may be involved in the maintenance of ingestion and the rapid postingestive rejection of noxious foods.

Subacute central nervous system degeneration in a child: an unusual manifestation of ifosfamide intoxication.

A 5-year-old child with desmoplastic small round-cell tumor was treated with a protocol of very-high-dose, short-term chemotherapy, containing HD-CAV (cyclophosphamide, doxorubicin, vincristine, and mesna), ifosfamide, and etoposide. Two days after the initiation of ifosfamide, he exhibited new-onset lethal encephalopathy manifested by subacutely progressive cerebellar and then temporal and frontocortical degeneration leading to a vegetative state and eventually to death. A full work-up, including brain biopsy, was negative, excluding infections and metabolic or vascular causes. Ifosfamide is known to be capable of causing acute encephalopathy that can be severe but is generally reversible. This child showed a very atypical progressive, lethal course of ifosfamide toxicity. The possibility of this complication should be considered when high-dose ifosfamide treatment is planned for children.

Periventricular brain heterotopias in a child with adrenocortical insufficiency, achalasia, alacrima, and neurologic abnormalities (Allgrove syndrome).

We describe a previously unreported finding of periventricular heterotopias in a brain magnetic resonance imaging (MRI) study, in a girl with adrenocortical insufficiency, alacrima, achalasia, and neurologic deterioration (Allgrove syndrome). This finding could indicate that the underlying mechanism in this syndrome can be traced to the first half of fetal life and also might cause abnormal neuronal migration. This disorder recently has been linked to chromosome 12q13. There could be several explanations for the clinical heterogeneity in this syndrome: a contiguous gene syndrome involving multiple genes, including one whose deletion causes heterotopias, or a deficiency of a gene for a neurotrophic factor active during pre- and postnatal life and responsible for both migration and survival of neurons could be the cause. The identification of the responsible gene(s) will lead to further understanding of this multisystem disorder.

Methotrexate treatment protocols and the central nervous system: significant cure with significant neurotoxicity.

Methotrexate can influence the central nervous system through several metabolic toxic pathways. These effects can be categorized as immediate, acute to subacute, or chronic neurologic syndromes. The acute to subacute syndrome occurs frequently in acute lymphoblastic leukemia treatment protocols, generally manifesting with focal neurologic signs and changes seen on magnetic resonance imaging and single photon emission computed tomography. While in some patients the neurotoxicity is transient and benign and allows for continuation of chemotherapy, in others it can be quite severe and debilitating, leading to permanent neurologic deficits. The need to modify the treatment protocols when neurotoxicity appears is not fully established. It is also unknown whether the use of sufficient amounts of leucovorin can overcome the toxic effects of the drug.

MRI meningeal enhancement with intracranial hypotension caused by lumbar puncture.

A 12-year-old girl with recent history of pseudotumor cerebri developed severe postural headache due to intracranial hypotension after lumbar puncture. Meningeal enhancement and thickening were demonstrated on magnetic resonance imaging. Repeated imaging 3 months later disclosed no abnormalities. This is the first report of a child with evident meningeal enhancement on magnetic resonance imaging related to lumbar puncture.

Preoperative localization of a foreign body by magnetic resonance imaging.

Nonradioopaque foreign bodies are very difficult to detect and localize. A case is presented in which a retained palm tree thorn was visualized and extracted with the help of magnetic resonance imaging.

Osteoid osteoma: resection with CT guidance.

BACKGROUND: Osteoid osteoma is a benign bone lesion characterized by nocturnal pain mostly, which may be relieved by non-steroidal prostaglandin inhibitors. Treatment by complete resection of the nidus immediately relieves the pain. Intraoperative location of the nidus may be difficult, and extensive bone resection may be necessary to ensure complete excision. Few studies have described resection of osteoid osteoma under CT guidance, and little attention has been given to lesions near the neurovascular bundle. OBJECTIVE: To report our results of osteoid osteoma resection under CT guidance, with specific attention to lesions lying near the neural structure. METHODS: Nine patients with suspected osteoid osteoma underwent resection with a 6.8 mm core drill under CT guidance. RESULTS: Histologic confirmation was obtained in seven patients, while in two there was no evidence of the nidus in the excised bone material. All nine reported complete pain relief immediately after the surgery. Postoperative CT scan showed complete removal of the osteoid osteoma. CONCLUSIONS: Removal of osteoid osteoma under CT guidance is simple, safe and allows complete removal of the nidus with low morbidity.

Traumatic adrenal injury in children.

BACKGROUND: Multiple organ injury in children is an increasingly frequent phenomenon in the modern emergency room. Adrenal hemorrhage associated with this type of trauma has received little attention in the past. OBJECTIVES: Using computed tomography, we sought to determine the rate and nature of adrenal gland injury in children following blunt abdominal trauma due to motor vehicular accident. METHODS: A total of 121 children with blunt abdominal trauma were examined and total body CT was performed in cases of multi-organ trauma or severe neurological injury. RESULTS: Of all the children who presented with blunt abdominal trauma over a 51 month period, 6 (4.95%) had adrenal hemorrhage. In all cases only the right adrenal gland was affected. Coincidental injury to the chest and other abdominal organs was noted in 66.7% and 50% of patients, respectively. CONCLUSIONS: Traumatic adrenal injury in the pediatric population may be more common than previously suspected. Widespread application of the more sophisticated imaging modalities available today will improve the detection of damage to the smaller organs in major collision injuries and will help in directing attention to the mechanism of trauma.