No abstract available.
Porphyrias, Hepatic*

Adult ; Hepatitis B ; complications ; Hepatitis B virus ; Humans ; Male ; Porphyrias, Hepatic ; virology

The porphyrias are a group of disorders caused by deficiency in the enzymes of the heme biosynthetic pathway. Patients with porphyria may develop neurovisceral attacks which include severe abdominal pain, neuropsychiatric manifestations and potentially fatal respiratory paralysis. However, these patients may also have abdominal pain not due to porphyria itself, and in such case, careful evaluation is important. We report a case of acute pancreatitis with masquerading acute attack of porphyria, which made us difficult to make a correct diagnosis. A 29-year-old female, previously diagnosed to have hepatic porphyria, presented with acute abdominal pain, back pain and leg pain for 3 days. Serum amylase was normal and 24-hour urine -ALA and PBG showed increased levels. After intravenous infusion of glucose, symptoms were improved. From the 10th day of admission, she complained severe abdominal pain, and was found to have severe metabolic acidosis, shock, and signs of peritonitis on the 12th day of admission. Emergency exploration revealed edematous pancreas. Amylase and lipase levels in serum and ascites were found to be markedly elevated. After conservative management, her general condition gradually improved and serum amylase and lipase levels were normalized.
Abdomen, Acute ; Abdominal Pain ; Acidosis ; Adult ; Amylases ; Ascites ; Back Pain ; Biosynthetic Pathways ; Diagnosis ; Emergencies ; Female ; Glucose ; Heme ; Humans ; Infusions, Intravenous ; Leg ; Lipase ; Pancreas ; Pancreatitis* ; Peritonitis ; Porphyrias* ; Porphyrias, Hepatic ; Respiratory Paralysis ; Shock

We report two cases of porphyric peripheral neuropathy in a 19-year-old male with variegate porphyria and in a 39 year-old male with intermittent acute prophyria. Clinically, there were sensory, motor disturbance and autonomic symptoms including decreased sweating, urinary and sphinctor distrubances. Variegate porphyria showed facial diplegia and positive family history inherited by autosomal dominent trait. Intermittent acute porphyria was combined-with SIADH. Both cases were expired due to respiratory failure. Nerve conduction studies were carried out in two cases and both cases showed slow motor, sensory nerve conductlon velocity ,and significant low CMAPs(Compound Muscle Action Potentials). Sural nerve biopsy was carried out in a variegate prophyria compared with one normal control. Decreased large myelinated fibers was found. In nerve fiber teased study. 8.5% of nerve fibers showed axonal degenration and only 2.3% of the segmental demyelination. There findings are suggesting that the porphyric neuro might be the axonal type.and severe neuropathy in a sign of poor prognosis.
Adult ; Axons ; Biopsy ; Demyelinating Diseases ; Humans ; Inappropriate ADH Syndrome ; Male ; Myelin Sheath ; Nerve Fibers ; Neural Conduction ; Peripheral Nervous System Diseases ; Porphyria, Acute Intermittent ; Porphyria, Variegate ; Prognosis ; Respiratory Insufficiency ; Sural Nerve ; Sweat ; Sweating ; Young Adult

No abstract available.
Alcoholism* ; Porphyria Cutanea Tarda* ; Porphyrias*

Porphyria is a rare metabolic disorder in this country and a few cases of acute intermittent porphyria has been reported. We observed a case of porphyria cutanea tarda associated with liver cirrhosis. The patient was 61-year-old farmer with heavy alcoholic habit. He had been suffered from skin fragility and photosensitivity for 3 years. His face color was slate blue and sclerdermoid appearance noted especially on the cheek. Bullae, which is healing slowly and followed by atrophic pigmented scars, were developed on the dorsum of hand and feet after receiving trivial trauma and massive alcohol intake. None of his family members has similar symptoms. Urine specimen showed port-wine coIor and fluoresced pinkish under the Wood's light. Serum iron level was markedly elevated (400 microgram%). The other abnormal findings of liver function test were BSP retention (16%/45min.), elevated SGOT (198 unit) and SGPT (80 unit) levels. Esophagram revealed suspicious of varices and liver scanning showed cirrhotic changes. Skin biopsy specimens taken from the cheek and dorsum of hand showed sclermoid changes and subepidermal bulla. Liver biopsy disclosed mild degree of cirrhotic changes.
Alanine Transaminase ; Alcoholics ; Aspartate Aminotransferases ; Biopsy ; Cheek ; Cicatrix ; Foot ; Hand ; Humans ; Iron ; Liver ; Liver Cirrhosis ; Liver Function Tests ; Middle Aged ; Porphyria Cutanea Tarda* ; Porphyria, Acute Intermittent ; Porphyrias* ; Skin ; Varicose Veins

Erythropoietic protoporphyria (EPP) is an autosomal dominant condition due to decreased activity of ferrochelatase. The disease is characterized by a wide range of photocutaneous changes and occasionally by liver disease. The level of protoporphyin is raised in erythkocytes and it may also be increased in the feces. We report herein a case of EPP present in a family which was diagnosed by a high free erythrocyte protoporphyrin (FEP) count.
Erythrocytes ; Feces ; Ferrochelatase ; Humans ; Liver Diseases ; Protoporphyria, Erythropoietic*

Erythropoietic protoporphyria (EPP) is an autosomal dominant condition due to decreased activity of ferrochelatase. The disease is characterized by a wide range of photocutaneous changes and occasionally by liver disease. The level of protoporphyin is raised in erythkocytes and it may also be increased in the feces. We report herein a case of EPP present in a family which was diagnosed by a high free erythrocyte protoporphyrin (FEP) count.
Erythrocytes ; Feces ; Ferrochelatase ; Humans ; Liver Diseases ; Protoporphyria, Erythropoietic*

Spinal epidural abscess is a medical and/or surgical emergency that may result in paralysis if not diagnosed and treated in a timely manner. It has been known that Staphylococcus aureus is the most common pathogen and that the posterior thoracic epidural space is a more vulnerable site. However, cervical epidural abscess is uncommon. We have recently experienced a patient with an epidural abscess secondary to acute osteomyelitis of the cervical spine caused by E. coli inary and sphinctor distrubances. Variegate porphyria showed facial diplegia.
Emergencies ; Epidural Abscess* ; Epidural Space ; Humans ; Osteomyelitis* ; Paralysis ; Porphyria, Variegate ; Spine* ; Staphylococcus aureus

No abstract available.
Humans ; Interferon-beta ; Interferons ; Multiple Sclerosis ; Porphyria Cutanea Tarda ; Porphyrias