ABSTRACT
Ask-Upmark kidney (AUK) is a scarred segment of the kidney, characterized by formation of primitive tubular and glomerular structures, and sporadically diagnosed as a cause of hypertension (HTN). A 6-year-old girl with neurofibromatosis type 1 (NF1) and moyamoya syndrome had severe HTN. Based on past history, she had HTN at the age of 1.5 years. Laboratory examination revealed slightly elevated plasma and renal venous renin activity without lateralization. No evidence of pheochromocytoma, or coarctation of the aorta was found. Contrast-enhanced computed tomography (CT) showed an area of hypoperfusion in the upper and middle poles with reduced size of the right kidney. The results of dimercaptosuccinic acid scintigraphy were in accordance with those of contrast-enhanced CT. Selected renal arteriography revealed a paucity of peripheral vascularity in the same parts of the right kidney. In the absence of a history of urinary tract infection and vesicoureteral reflux by cystography, we presumed that the severe HTN may be due to segmental hypoplasia of the kidney, AUK, with a possible contribution from NF1. Although renal artery stenosis and pheochromocytoma are well-known causes of HTN in NF1, this case demonstrates that HTN can be caused by AUK in patients with NF1.
Subject(s)
Coloboma/etiology , Hypertension/etiology , Kidney/pathology , Moyamoya Disease/complications , Neurofibromatosis 1/complications , Proteinuria/diagnosis , Renal Insufficiency/etiology , Vesico-Ureteral Reflux/etiology , Angiography/methods , Antihypertensive Agents/therapeutic use , Child , Coloboma/diagnosis , Contrast Media/administration & dosage , Female , Humans , Hypertension/diagnosis , Hypertension/drug therapy , Kidney/blood supply , Kidney/diagnostic imaging , Kidney Glomerulus/pathology , Moyamoya Disease/diagnosis , Neurofibromatosis 1/diagnosis , Proteinuria/etiology , Radionuclide Imaging/methods , Renal Insufficiency/diagnosis , Renin/blood , Succimer/administration & dosage , Tomography, X-Ray Computed/methods , Treatment Outcome , Vesico-Ureteral Reflux/diagnosisABSTRACT
Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive metabolic disease with severe neurological symptoms. Most disease-causing mutations are found in the MOCS1 gene, corresponding to MoCD type A (MoCD-A). There have been few reports describing the long-term detailed neurological features with MoCD-A because most patients do not survive childhood. We describe the clinical, radiologic, biochemical, and genetic data of two patients (female siblings aged 26 and 22 years) with MoCD-A. Both patients presented with feeding difficulties, neurological deterioration, and persistent generalized muscle contraction which can be easily confused with status dystonicus. Biochemical tests revealed low serum uric acid, elevated urinary sulfocysteine, and xanthine. Brain magnetic resonance imaging (MRI) revealed distinctive abnormalities in the bilateral caudate nucleus, putamen, globus pallidus, and cerebral white matter adjacent to the cortex. The thalamus was relatively unaffected. Genetic testing identified a novel homozygous variant in the MOCS1 gene (c.949C > T p.Arg317Cys). Biochemical results supported the hypothesis that this genetic variant is a pathological mutation. When there are symptoms of persistent generalized muscle contraction and characteristic MRI findings, MoCD should be considered as a differential diagnosis.
Subject(s)
Metal Metabolism, Inborn Errors/diagnostic imaging , Metal Metabolism, Inborn Errors/genetics , Muscle Contraction/genetics , Siblings , Adult , Female , Humans , Metal Metabolism, Inborn Errors/complications , Young AdultABSTRACT
: Congenital dysfibrinogenemia refers to the presence of a dysfunctional fibrinogen molecule, typically because of mutations in the fibrinogen gene. About 20% of fibrinogen gene mutations are responsible for thrombosis. Here, we described the case of a 17-year-old Japanese boy, who had a sudden stroke because of superior sagittal sinus thrombosis associated with dysfibrinogenemia. Genetic testing confirmed the presence of homozygous fibrinogen Naples (BßAla68Thr) mutation, which was previously reported as a causative mutation for thrombotic dysfibrinogenemia only in an Italian family. In this Japanese family, the patient's 12-year-old asymptomatic sister was also homozygous for this mutation. She, like her brother, was started on warfarin therapy. This report highlights the occurrence of fibrinogen Naples that has caused severe thrombotic complications in a young member of a Japanese family.
Subject(s)
Afibrinogenemia/complications , Fibrinogens, Abnormal/adverse effects , Sagittal Sinus Thrombosis/etiology , Adolescent , Afibrinogenemia/pathology , Humans , Japan , Male , Sagittal Sinus Thrombosis/pathologyABSTRACT
A 14-year-old girl was treated for 3 days with tosufloxacin (450 mg twice a day) for acute bronchitis and then developed acute kidney injury. Renal ultrasound showed enlarged kidneys without hydronephrosis. Urinalysis indicated drug crystal casts (2-3/HPF), consistent with drug-induced crystalline nephropathy. The patient recovered gradually with i.v. hydration and discontinuation of tosufloxacin, leading to the diagnosis of tosufloxacin crystalline nephropathy. Medical practitioners should be aware that crystalline nephropathy can occur in pediatric patients receiving tosufloxacin.
Subject(s)
Acute Kidney Injury/chemically induced , Fluoroquinolones/adverse effects , Kidney/pathology , Naphthyridines/adverse effects , Adolescent , Biopsy , Bronchitis/drug therapy , Diagnosis, Differential , Female , Fluoroquinolones/therapeutic use , Humans , Kidney/drug effects , Naphthyridines/therapeutic useABSTRACT
A case of late-infantile Krabbe disease in a patient who presented with developmental regression and spastic quadriplegia in late infancy is reported. Brain magnetic resonance imaging (MRI) at 11 months of age showed predominant corticospinal tract involvement, which usually appears in adult Krabbe disease. Galactocerebrosidase activity in lymphocytes and skin fibroblasts was very low. Genetic testing revealed compound heterozygous mutations of the galactocerebrosidase (GALC) gene, c.635_646 delinsCTC and c.1901T>C [p.L618S], both of which are known pathogenic mutations. It has been reported that the c.1901T>C [p.L618S] mutation is associated with the late-onset phenotype and, in a past case, a homozygous mutation at this location showed predominant corticospinal tract involvement on MRI. Although further analysis is needed to identify the pathophysiological mechanism, this combination of mutations is likely to be associated with this unusual MRI finding in late-infantile Krabbe disease. Because these types of mutations are common for Japanese patients, it is possible that there are more undiagnosed and late-diagnosed patients of late-infantile Krabbe disease who display limited lesions on MRI. Pediatricians should be aware that patients with late-infantile Krabbe disease can present with predominant corticospinal tract involvement on MRI.
ABSTRACT
We report a case of nemaline myopathy with KLHL40 mutation, presenting as congenital totally locked-in state. At birth, a male patient developed hydrops fetalis, which was diagnosed based on the generalized edema and pleural effusion and could perform no significant spontaneous movements. His eyes were open, without blinking, and the eyeballs were locked in the midposition. He could not express his intentions by vocalization or moving his trunk, extremities, facial muscles, mouth, eyelids, or eyeballs in response to ambient events or personal interactions. Electrophysiological tests and neuroimaging revealed no evidence of visual or auditory impairment that might indicate a lack of sensory perception, and no evidence of impaired consciousness or intellectual disorder(s) that might prevent him from recognizing ambient events or expressing his intentions. He subsequently died at 4 years of age. Our case highlights the fact that severe congenital neuromuscular disorders can present as congenital totally locked-in state, and that special attention should be provided to these patients.
Subject(s)
Muscle Proteins/genetics , Mutation , Myopathies, Nemaline/genetics , Quadriplegia/genetics , Brain/pathology , Fatal Outcome , Humans , Infant, Newborn , Male , Muscle, Skeletal/pathology , Myopathies, Nemaline/complications , Quadriplegia/complications , Quadriplegia/congenital , Quadriplegia/pathologyABSTRACT
Os odontoideum is a separate ossicle from the odontoid process from the body of the axis by a variable transverse gap. A boy with cerebral palsy probably due to prematurity and kernicterus, was treated with botulinum toxin for continuous dystonic movements at the age of 3.5 years. Although botulinum toxin appeared to be remarkably effective for relaxing hypertonia, abnormal frequent anterior flexion of the neck remained. Because of feeding difficulty and frequent aspiration episodes, additional botulinum toxin therapy was discontinued. His condition seemed to be stable and he could walk with support at age 7. However, at age 8, he presented with decreased movement of the extremities and bilateral ankle clonus. Radiographic examination of the cervical spine revealed cystic lesion and os odontoideum. With cervical posterior fixation, the patient made a good recovery. Although athetoid cerebral palsy displays an increased risk of cervical myelopathy, os odontoideum is rare in early childhood. The frequent dynamic stress of the neck due to an unbalanced, persistently contracted state and sudden collapse, possibly attributed to botulinum toxin therapy, might have led to atlantoaxial instability and os odontoideum.
Subject(s)
Botulinum Toxins/therapeutic use , Cerebral Palsy/complications , Dystonia/drug therapy , Odontoid Process/pathology , Spinal Cord Diseases/etiology , Child , Dystonia/etiology , Humans , Magnetic Resonance Imaging , MaleABSTRACT
A 4-month-old boy presented with cardiopulmonary arrest on arrival after a brief period of lethargy. Laboratory examination indicated severe hyperkalemia, hyponatremia, metabolic acidosis, and slightly elevated C-reactive protein. Whole body computed tomography identified left-dominant hydronephrosis, hydroureter and cholelithiasis. Despite cardiac arrest >30 min, he was successfully resuscitated and treated with therapeutic hypothermia. Escherichia coli was detected on urine culture. Renal ultrasound showed bilateral hydronephrosis, grade II in the right and grade IV in the left. Retrospective analysis of the blood sample at admission indicated a high level of aldosterone. The patient recovered almost fully with no electrolyte imbalance and normal plasma renin and aldosterone, leading to the diagnosis of secondary pseudohypoaldosteronism associated with bilateral infected hydronephrosis. In this case, cholelithiasis, which may account for chronic dehydration, was a diagnostic clue in the absence of information of pre-existing situations.
Subject(s)
Cholelithiasis/etiology , Heart Arrest/etiology , Pseudohypoaldosteronism/complications , Humans , Infant , Male , Retrospective StudiesABSTRACT
A 9-year-old boy presented with sudden onset of nausea, vomiting and unsteady gait after a bread-eating game, which possibly caused neck hyperextension. Neurological examination revealed hemisensory loss of pain and temperature sensation in the right trunk and limbs along with left Horner's syndrome, suggesting lateral medullary syndrome (LMS). Magnetic resonance (MR) imaging of the brain revealed infarction at the left lateral medulla. MR angiography showed no sign of arterial dissection and no occlusion or stenosis of the intracranial, basilar or vertebral arteries or their branches. No evidence of cardioemboli or systemic inflammation was apparent. Repeated blood examination revealed low activity of fibrinogen. Genetic testing confirmed the presence of hereditary dysfibrinogenemia with a mutation in the FGB gene (BßGly15Cys). This fibrinogen variant has previously been found in Japanese patients with atherosclerosis obliterans or no symptoms. Under conservative treatment without anticoagulation and aspirin, the patient made a good recovery within a few months. We presume that microthrombosis may have been deposited within the vertebral system as a result of extension and rotation of the neck during sports activity, with a contribution from hereditary dysfibrinogenemia.
Subject(s)
Afibrinogenemia/congenital , Lateral Medullary Syndrome/genetics , Vertebral Artery/pathology , Afibrinogenemia/complications , Afibrinogenemia/genetics , Brain/blood supply , Child , Humans , Lateral Medullary Syndrome/diagnosis , Lateral Medullary Syndrome/etiology , Lateral Medullary Syndrome/pathology , Lateral Medullary Syndrome/therapy , Magnetic Resonance Angiography/methods , Magnetic Resonance Imaging/methods , Male , Neck/pathology , Treatment OutcomeABSTRACT
A male infant was diagnosed as having renal venous thrombosis (RVT) in association with bilateral flank masses, macroscopic hematuria, and thrombocytopenia. In the course of supportive treatment, hyponatremia, hyperkalemia, and metabolic acidosis became prominent. Plasma renin activity (PRA) and aldosterone increased markedly. Treatment with sufficient sodium chloride and sodium bicarbonate intake was effective. It is important to note that tubular damage by RVT causes secondary pseudohypoaldosteronism.
Subject(s)
Aldosterone/blood , Pseudohypoaldosteronism/complications , Renal Veins , Venous Thrombosis/etiology , Follow-Up Studies , Humans , Infant, Newborn , Male , Pseudohypoaldosteronism/blood , Ultrasonography , Venous Thrombosis/diagnostic imagingABSTRACT
Advanced high-throughput molecular cytogenetic analysis has enabled the identification of small chromosomal rearrangements, and two or more concurrently occurring chromosomal rearrangements have been identified using this technique. A girl with severe psychomotor developmental delay associated with an uncertain abnormality (detected by conventional karyotyping) in chromosome 10q had a sudden stroke at the age of 35 months. Laboratory and radiographic examinations revealed antithrombin (AT) deficiency and a patent foramen ovale (PFO). Two concurrent chromosomal aberrations, inverted duplication and deletion in the 10q26 region and a microdeletion in the 1q24.2q25.2 region including the AT gene (SERPINC1), were identified by microarray-based comparative genomic hybridization analysis. Both chromosomal aberrations were found to be of paternal origin. This study described the concurrence of chromosomal rearrangements involving two chromosomes, and estimated the frequency of two or more chromosomal aberrations as 2-4%.
Subject(s)
Antithrombin III Deficiency/pathology , Chromosome Deletion , Chromosome Duplication/genetics , Chromosomes, Human, Pair 10/genetics , Chromosomes, Human, Pair 1/genetics , Foramen Ovale, Patent/pathology , Stroke/pathology , Antithrombin III/genetics , Antithrombin III Deficiency/genetics , Child, Preschool , Comparative Genomic Hybridization , Female , Foramen Ovale, Patent/genetics , Humans , Stroke/geneticsABSTRACT
We report two sibling cases of pontocerebellar hypoplasia type 1 (PCH-1), which showed severe generalized hypotonia, psychomotor delay, and visual impairment. Magnetic resonance imaging in the neonatal period revealed delayed gyration compared to the postconceptional ages in both cases. The elder brother died with pneumonia at 10months of age, and the younger brother survived to over 6years of age. Repeated neuroimaging in the younger brother revealed improvement of the delayed gyration and progressive atrophy, not only in the pons and cerebellum, but also in the cerebrum. To the best of our knowledge, this is the first report of delayed gyration in PCH-1.
Subject(s)
Abnormalities, Multiple/pathology , Olivopontocerebellar Atrophies/complications , Olivopontocerebellar Atrophies/pathology , Brain/abnormalities , Brain/pathology , Child , Chromosome Mapping/methods , Evoked Potentials, Auditory, Brain Stem/physiology , Humans , Infant , Magnetic Resonance Imaging/methods , Male , SiblingsSubject(s)
Integrin alpha Chains/deficiency , Muscular Dystrophies/congenital , Muscular Dystrophies/metabolism , Antigens, CD/genetics , Humans , Integrin alpha Chains/genetics , Longitudinal Studies , Male , Muscle, Skeletal/physiopathology , Muscular Dystrophies/genetics , Muscular Dystrophies/pathologyABSTRACT
Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder due to mutations in the proteolipid protein (PLP) gene. PLP gene mutations are responsible for a broad spectrum of disease, from the most severe form, connatal PMD, to a less severe form, spastic paraplegia 2 (SPG2). We describe here a very mild case of PMD in a patient who presented with nystagmus in early infancy and was unable to walk until 1 year 7 months of age. Brain magnetic resonance imaging (MRI) at 1 year 7 months of age revealed white matter abnormalities typical of PMD. Genetic testing revealed a novel mutation of the PLP gene (Gly197Arg). The patient presented with only mildly ataxic gait and slurred speech at the age of 4 years. Gly197Arg is the first novel mutation located within exon 4 of the PLP gene and associated with mild PMD/SPG2 in a Japanese patient.
Subject(s)
DNA-Binding Proteins/genetics , Mutation , Pelizaeus-Merzbacher Disease/genetics , Transcription Factors/genetics , Brain/pathology , Child, Preschool , DNA Mutational Analysis , Humans , Japan , Magnetic Resonance Imaging , Male , PhenotypeABSTRACT
We report on a 14-year-old male suffering from acute encephalitis, whose clinical course met the criteria for acute encephalopathy with refractory, repetitive partial seizures (AERRPS). He presented with extremely refractory partial and secondary generalized seizures, and required high-dose barbiturate infusion therapy for 57 days under mechanical ventilation. Seven weeks after onset, the seizures were ameliorated by treatment with sodium bromide, carbamazepine, clobazam, and high-dose phenobarbital. Magnetic resonance imaging on day 14 of admission showed multifocal cortical lesions scattered in the bilateral hemispheres; these disappeared on day 34. Diffuse and mild atrophy of the cerebral cortex, and moderate atrophy of the hippocampus, appeared by day 61. Serum anti-glutamate receptor epsilon2 autoantibodies were detected on day 2. The patient was discharged after 113 days of admission with intractable epilepsy, memory disability, and regression of intelligence. We discuss the etiological significance of the multifocal lesions, which are unusual findings on neuroimaging of AERRPS.