Acute intermittent porphyria presenting as acute pancreatitis and posterior reversible encephalopathy syndrome

Acute intermittent porphyria (AIP) is an inherited metabolic disease that can affect the autonomic, peripheral and central nervous systems. Pancreatic diseases assocated with AIP is rarely reported. We report here a 60-year-old non-alcoholic male who had typical manifestations of AIP, including abdominal pain, constipation, tachycardia, hypertension, mental disturbances, psychiatric manifestations, seizures, peripheral neuropathy, and excessive excretion of porphyrin precursors in urine. Increases of serum amylase and lipase, as well as mild pancreatic edema on ultrasonography, were noted during the acute attack of AIP, suggesting concomitant acute pancreatitis. In this patient, brain magnetic resonance imaging revealed reversible multifocal cerebral lesions resembling a posterior reversible encephalopathy syndrome (PRES) during the acute attack of AIP. Because the clinical manifestations of acute pancreatitis could be present with an acute attack of AIP, early confirmation of diagnosis is mandatory to effectively manage the attack and avoid inappropriate treatment.     

Reversible splenial lesion with restricted diffusion in a wide spectrum of diseases and conditions

OBJECTIVE: Reversible lesion in the central area of the splenium of the corpus callosum (SCC) is a unique phenomenon occurring particularly in patients with encephalitis or encephalopathy and in patients receiving antiepileptic drugs (AED). We report MR imaging findings, clinical courses, and outcomes in eight patients with various diseases and conditions. MATERIALS AND METHODS: Eight patients with a reversible SCC lesion with transiently restricted diffusion were reviewed retrospectively. Diseases and conditions that were associated with a reversible lesion included epilepsy receiving AED (n=1), seizure from eclampsia receiving AED (n=1), mild infectious encephalitis (n=2), hypernatremia resulting in osmotic myelinolysis (n=1), and neoplasm (n=3) such as acute lymphocytic leukemia, spinal meningeal melanocytoma, and esophageal cancer. We evaluated MR imaging findings and clinical findings. RESULTS: Seven patients had isolated SCC lesions; one patient with osmotic myelinolysis showed additional parenchymal lesions. The reversible SCC lesion shape was oval (n=6) or extended (n=2). The mean apparent diffusion coefficient value of the splenial lesion was 0.40+/-0.16 x 10-3 mm2/s, ranging from 0.22 to 0.64 x 10-3 mm2/s. In a patient with osmotic myelinolysis, additional white matter lesions, shown as restricted diffusion, were revealed as not reversible on follow-up MR imaging. Neurological courses and outcomes were good in seven patients with isolated SCC lesions, but poor in one with osmotic myelinolysis. CONCLUSION: Reversible SCC lesion with restricted diffusion is apparent in a wide spectrum of diseases and conditions. Neurological courses and outcomes are good, particularly in patients with isolated SCC lesions. Knowledge of MR imaging findings and the associated spectrum of diseases and conditions might prevent unnecessary invasive examinations and treatments.     

Diffusion-weighted MR findings in a reversible case of acute Wernicke encephalopathy

We report a case of acute Wernicke encephalopathy (WE) in which apparent diffusion coefficient maps showed areas of increased diffusion in the bilateral medial thalami that corresponded to the hyperintense lesions on T2-weighted imaging. The hyperintense lesions on T2-weighted imaging disappeared with full recovery from symptoms. These findings suggest that the hyperintense lesions of the acute changes of WE include reversible vasogenic edema and are not caused by acute ischemia.     

Reversible brainstem hypertensive encephalopathy (RBHE): Clinicoradiologic dissociation

We report two cases of reversible brainstem hypertensive encephalopathy (RBHE) with unusual magnetic resonance (MR) findings. Patient 1, an 85-year-old man without a history of hypertension, developed acute severe hypertension and mild consciousness disturbance as the only symptoms. Patient 2, a 46-year-old man with an untreated hypertension, presented with extremely high blood pressure and general fatigue, vertigo, and mild dysarthria as the initial manifestations. In these patients, fluid-attenuated inversion recovery (FLAIR) and T2-weighted MR images revealed diffuse hyperintensities in the brainstem. Diffusion-weighted imaging (DWI) findings were normal, and apparent diffusion coefficient (ADC) values were increased in the brainstem. The supratentorial regions were largely spared, and mildly diffuse hyperintensities were noted in the white matter. There were no accompanying changes in the occipital lobe and cerebellum. The lesions completely resolved after stabilization of blood pressure. The normal DWI findings and high ADC values were consistent with vasogenic edema due to severe hypertension. The characteristics of RBHE are a very high blood pressure, mild clinical and neurologic symptoms, rapidly improved MR findings after initial treatment with the control of hypertension, and a marked clinicoradiologic dissociation.     

Cortical amaurosis and status epilepticus with acute porphyria

The most common neurologic manifestations of acute intermittent porphyria (AIP) are autonomic visceral neuropathy, peripheral motor neuropathy, and CNS dysfunctions including seizures and neuropsychiatric disturbances. In rare instances, however, AIP patients have presented with acute cortical blindness. We present a 20-year-old woman who suffered her first attack of AIP. Following 1 week of abdominal pain, she was transferred from a surgical department because of sudden visual loss and deterioration of consciousness. On admission, she developed several generalized seizures. Magnetic resonance imaging showed bilateral DWI lesions occipitally and in the left anterior circulation. Cerebrospinal fluid, MR angiography, and duplex ultrasound were normal. On the following day, sedation and intubation became necessary because of a generalized status epilepticus. Analysis of porphyrinogens in blood, urine and stool showed significantly elevated values. Intravenous therapy with h?m-arginate was initiated and antiepileptic therapy was changed to gagabentine. Under this therapeutical regime she remained stable and extubation was possible 48 h later.     

MRI reveals multiple reversible cerebral lesions in an attack of acute intermittent porphyria

A 20-year-old woman had an attack of acute intermittent porphyria (AIP) with seizures and hallucinations. MRI revealed multiple lesions in both hemispheres. Both the cerebral clinical abnormalities and the MRI lesions resolved following treatment. These findings suggest that a vascular mechanism may underlie the pathogenesis of cerebral dysfunction in AIP.     

Valproate-induced encephalopathy: assessment with MR imaging and 1H MR spectroscopy

The anticonvulsant agent valproate (VPA) may cause hyperammonemic encephalopathy. Magnetic resonance imaging (MRI) and proton MR spectroscopic (MRS) findings in a patient with VPA-induced hyperammonemic encephalopathy are described. MRI showed a metabolic-toxic lesion pattern with bilateral T2-hyperintense lesions in the cerebellar white matter and in the globus pallidus. MR spectroscopic findings were indistinguishable from hepatic encephalopathy with severe depletion of myoinositol and choline and with glutamine excess. N-Acetylaspartate levels were moderately decreased. Quantitative MRS gave detailed insight into alterations of brain metabolism in VPA-induced encephalopathy.     

Neurologic disorders in acute intermittent porphyria

In a material of 28 patients with acute intermittent porphyria and 2 with mixed porphyria neurological disturbances occurring in acute attach and the degree of their persistence during remission were analysed. The obtained results indicate that the symptoms of acute attach are neurogenic. In the acute phase of the disease a reversible disturbance of function develops in the first place in the nerve fibres with acetylcholine-type of impulse transmission. Clinically detectable permanent signs of polyneuropathy were observed only in some cases with most severe and prolonged acute attack.     

Acute intermittent porphyria and mental illness – a family study

All cases of acute intermittent porphyria (AIP) are believed to be caused by a mutation in the gene encoding for porphobilinogen deaminase, a rate-limiting enzyme in the haem synthetic pathway. This gene has been mapped to the long arm of chromosome 11, a region of the genome that has recently attracted considerable attention as a possible location for genes implicated in major mental disorder. This study was designed to show whether major mental illness co-segregated with acute intermittent porphyria in families where the two conditions are found. The study also investigated the relation between clinical mental symptoms and biochemical parameters of acute intermittent porphyria. The case records of 344 consecutive patients admitted to the Porphyrias Research Group in the Western Infirmary in Glasgow between 1950 and 1988 with acute intermittent porphyria were examined for evidence of psychiatric contact. Of 16 individuals identified, 12 were available for the study. Forty relatives of these 12 probands, including 9 who were asymptomatic carriers of AIP, were interviewed for lifetime history of mental illness and current symptoms. Comparisons were made between 4 groups of patients based on urinary porphyrin levels and erythrocyte enzyme activity; 1) manifest acute intermittent porphyria, 2) latent acute intermittent porphyria, 3) normal relatives and 4) total acute intermittent porphyria (latent and manifest combined). No association was found between AIP and schizophrenia or manic-depressive illness. Only one patient with schizophrenia was found in the sample of 344 case notes, and in 2 families bipolar illness was found but did not segregate with acute intermittent porphyria. The commonest psychiatric diagnosis in patients was generalized anxiety. In the total AIP group (latent and manifest), compared with normals, the rating scale measures of anxiety were significantly correlated with the level of porphyrin metabolites in the urine at the time of rating. This was true even in subjects with latent AIP, who were not at the time of testing aware that they were asymptomatic carriers of the illness. AIP should be considered in the differential diagnosis of generalized anxiety disorder.     

MR imaging of the neonatal brain

The advent of modern neuroimaging tools and methods has revolutionized the evaluation of the brain in neonates. The development of magnetic resonance (MR)-compatible monitoring tools and incubators has alleviated concerns regarding transportation of these unstable infants. The development of dedicated neonatal imaging coils has increased signal-to-noise ratios dramatically in images of the neonatal brain; this has made high-quality anatomic imaging, diffusion tensor imaging, and proton MR spectroscopy feasible in a normal imaging time. In centers that are equipped properly for neonatal MR imaging, MR is now unquestionably the study of choice for neonates who have encephalopathy or suspected brain injury. This article discusses the application of modern MR techniques to some of the causes of encephalopathy in neonates.     

Reversible metronidazole-induced encephalopathy

We report the neuroimaging findings of a case of reversible metronidazole-induced encephalopathy. Magnetic resonance imaging (MRI) demonstrated lesions in highly suggestive locations. Follow-up imaging performed 1 month after cessation of metronidazole therapy demonstrated resolution of imaging findings.     

Lowe syndrome: proton mr spectroscopy, and diffusion mr imaging

A 3-year-old boy with Lowe syndrome had bilateral periatrial hyperintense lesions intermixed with small cyst-like changes in the periatial regions of the deep white matter at MR imaging. Proton MR spectroscopy revealed prominent myoinositol peaks suggesting the presence of gliosis. b = 1000 s/mm2 images of diffusion MR imaging were negative for the periatrial lesions. ADC maps, however, revealed high ADC values (1.76, and 1.66 x 10(-3) mm2/s), compared to the normal brain parenchyma (0.81 x 10(-3) mm2/s). These diffusion MR imaging findings likely represented gliosis.     

Proton MR spectroscopy in the diagnosis and differentiation of encephalitis from other mimicking lesions

In this study, proton magnetic resonance spectroscopy (1H MRS) findings of encephalitis were reported. For comparison, other lesions mimicking encephalitis on conventional magnetic resonance (MR) imaging were included in the study. These lesions consisted of acute infarctions and low grade infiltrative gliomas. The 1H MRS findings of encephalitis and gliomas were almost the same whereas infarctions revealed high lactate levels differentiating the disorder from other two pathologies. The differentiation of encephalitis and gliomas based on MR findings could reliably made with short time follow up MR examinations where gliomas tend to grow in contrast to encephalitis which showed regression.     

Porphyria and psychosis: a case report

This article reports the case of a 41 year old female with a history of acute intermittent porphyria who presented with exacerbation of a chronic psychotic illness. Though the evaluative studies for an acute porphyric episode were negative, psychological testing was consistent with an organic patchy cognitive decline. This finding is discussed in relation to the reported assymetric neuropathic lesions reported in porphyria.     

The magnetic resonance spectroscopy findings of extrapontine myelinolysis in a patient with acute lymphoblastic leukemia

The magnetic resonance (MR) spectroscopy findings of extrapontine myelinolysis have been rarely reported. Herein, we present MR spectroscopy findings as well as the conventional MR and diffusion MR findings of an acute lymphoblastic leukemia patient with extrapontine myelinolysis. Advanced MR imaging including diffusion-weighted imaging and MR spectroscopy may be helpful to exclude other pathologies in the differential diagnosis and make the diagnosis when there is a diagnostic difficulty on cases clinically suspicious for extrapontine myelinolysis.     

Cerebral fat embolism: Use of MR spectroscopy for accurate diagnosis

Cerebral fat embolism (CFE) is an uncommon but serious complication following orthopedic procedures. It usually presents with altered mental status, and can be a part of fat embolism syndrome (FES) if associated with cutaneous and respiratory manifestations. Because of the presence of other common factors affecting the mental status, particularly in the postoperative period, the diagnosis of CFE can be challenging. Magnetic resonance imaging (MRI) of brain typically shows multiple lesions distributed predominantly in the subcortical region, which appear as hyperintense lesions on T2 and diffusion weighted images. Although the location offers a clue, the MRI findings are not specific for CFE. Watershed infarcts, hypoxic encephalopathy, disseminated infections, demyelinating disorders, diffuse axonal injury can also show similar changes on MRI of brain. The presence of fat in these hyperintense lesions, identified by MR spectroscopy as raised lipid peaks will help in accurate diagnosis of CFE. Normal brain tissue or conditions producing similar MRI changes will not show any lipid peak on MR spectroscopy. We present a case of CFE initially misdiagnosed as brain stem stroke based on clinical presentation and cranial computed tomography (CT) scan, and later, MR spectroscopy elucidated the accurate diagnosis.     

复发型伴胼胝体压部可逆性病变的轻度脑炎/脑病Ⅱ型一例

伴胼胝体压部可逆性病变的轻度脑炎/脑病临床、影像表现特异。根据病变累及范围分为Ⅰ型和Ⅱ型,临床以Ⅰ型多见,Ⅱ型少见。文中报道1例罕见的复发型伴胼胝体压部可逆性病变的轻度脑炎/脑病Ⅱ型患者。该例患者首次发病表现为典型的Ⅱ型伴胼胝体压部可逆性病变的轻度脑炎/脑病,累及胼胝体及深部脑白质,短期复查病变消失;2年后病变复发,病变累及范围与第一次相似,短期复查病变消失。结合相关文献对其临床及影像学表现进行分析,以加深对该病的认识,提高诊治水平。     

Reversible extensive leukoencephalopathy in Sweet disease: a case report

Sweet disease, also known as acute febrile neutrophilic dermatosis, is an idiopathic multisystem inflammatory disorder characterised by erythematous skin lesions and fever. "Neuro-Sweet disease" is a rare central nervous system involvement that coexists with the characteristic cutaneous lesions of Sweet disease. Here, we report a case of Sweet disease complicated with acute encephalopathy. This case showed extensive lesions in the cerebral white matter on magnetic resonance imaging (MRI) and high protein concentration in the cerebrospinal fluid (CSF) without pleocytosis. After steroid therapy, the patient's clinical syndrome recovered completely with no significant neurological deficits or abnormal findings on brain MRI, and normalization of the high CSF protein concentration. Both clinical and MRI findings suggested that the marked leukoencephalopathy in this case was mainly due to reversible oedema rather than destructive structural alterations in the cerebral parenchyma.     

Electrodiagnostic findings in acute porphyric neuropathy

Of 115 patients with acute intermittent porphyria seen during a 20-year period, 11 had experienced an acute episode of quadriparesis. Nerve conduction studies performed on 8 of these 11 patients showed lowamplitude compound action potentials and normal velocity measurements. Needle electromyography demonstrated prominent fibrillation potentials, especially in proximal muscles. The changes in these findings with time confirm that this disorder is an acute axonal neuropathy.     

High prevalence of intermittent acute porphyria in a psychiatric patient population

The authors screened 3,867 psychiatric inpatients for intermittent acute porphyria by use of a spot test to detect diminished activity of the erythrocyte enzyme porphobilinogen (PBG) deaminase. Eighteen individuals so identified also had persistently diminished quantitative activity of PBG deaminase. Eight of these appeared to have intermittent acute porphyria by the added criteria of increased urinary delta-aminolevulinic acid or PBG or a family history of intermittent acute porphyria. The overall prevalence of intermittent acute porphyria was 0.21%, a considerably higher rate than that in the general population. Most of the subjects with the disorder had periods of agitated psychosis and apathetic or depressed withdrawal, with signs of neuropsychological impairment. Neurologic abnormalities were not prevalent.