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NEUROLOGICAL MANIFESTATION IN PORPHYRIA

SANGEETA AHER*, ND KARNIK**
*Lecturer; **Head of Unit and Professor; LTMC, Sion.

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Porphyria is due to acquired or inherited disorder of specific enzymes in haeme biosynthesis. They are classified as hepatic or erythropoietic depending on overproduction or accumulation of porphyrin. Hepatic porphyria has neurological manifestation with classic triad of abdominal pain, neuropathy and mental disturbances. Lab diagnosis of elevated urinary delta amino-levulinic acid (ALA) and porphobilinogen (PBG) is the hallmark of the disease.

CASE REPORT

Day 1 : A 13 years old male patient was admitted for status epilepticus, headache, blurring of vision. Patient also had acute abdominal pain with vomiting for which he underwent appendicectomy operation. Post operation patient had oliguria with malignant hypertension with BP of 220/120 mmHg. No past h/o fever / TB / HT / Epilepsy / DM or similar episodes.

Day 2 : Patient had generalised tonic-clonic convulsion which responded to antiepileptics and anti-hypertensives. CT scan brain and CSF reports were normal.

Day 3 : Patient had acute abdominal pain with altered sensorium. Patient had only perception of light with absent finger counting.

Day 4 : Patient was diagnosed to have bilateral optic atrophy. He also developed severe autonomic dysfunction with fluctuating pulse and BP. Vision was finger counting at 1 feet. Patient was subjected to all biochemical investigation which were within normal limits except for S. Na. which was 112 meq/l, urinary osmolality was 710 meq/KG, urinary Na was 240 meq/24 hours (N=100-260). Patient was diagnosed as SIADH (Syndrome of inappropriate ADH secretion) and Na corrected by giving 3% N saline. His vision improved to finger counting at distance of 3 meters. Blood delta ALA was 26 (N-010-4.50). With elevated urine porphobilinogen. Patient was diagnosed to have porphyria.

Day 5 : Patient had acute onset of quadriparesis with absent knee reflex, ankles present. Patient had hyposmia with power of 3/5 in all limbs.

Day 6 : Patient had acute flaccid quadriplegia of (AIDP) with hypotonia, absent reflexes, flexor plantars. Patient also had respiratory fatigue. Patient was intubated and kept on ventilatory support. Patient vision improved completely to 6/6.

Day 20 : Patient expired due to severe autonomic dysfunction, ventricular tachycardia and nosocomial pneumonia.

Investigation

HB = 11.3 gm%, TC = 10,000, DC = 62/36/02, Platelet = 2.2 Lac, T. Bilirubin = 0.8, AST = 103, ALT = 75, T. Protein = 6.9, Albumin = 3.5, BUN = 9.8, S. Na = 122, K = 3.5, CSF = 4 cells, Sugar = 70, VDRL = Negative, RA = Negative blood, D. ALA = 26 (0.10 to 4.50). Urine shows elevated porphobiliongen.

Treatment

Patient was treated with 25% glucose 500 ml/day manitol, dexamethasone, antihypertensives, eptoin, antibiotics, B-blockers for autonomic dysfunction, 4 pints of fresh blood, 3% N saline for SIADH with fluid restriction.

DISCUSSION

Porphyria are rare autosomal recessive trait, first described in 4 males in Europe. They resulted due to disorder of specific enzymes in the hemebiosynthetic pathway due to overproduction of porphyrin precursor. They are classified as hepatic or erythropoietic. Hepatic porphyria are characterized by neurological manifestations cause which are known with triad of abdominal pain, neuropathy and mental disturbance. Erythropoietic porphyrias are characterized by cutaneous photosensitivity leading to scarring and deformities. Other factors like environmental, physiological, genetic factors, drugs also contribute to porphyria neurovisceral symptoms rarely occur before puberty. Abdominal pain with cramps is the most common symptom, fever and leucocytosis are absent or mild as the symptoms are neurological than inflammatory. Nausea, vomiting, constipation, tachycardia, hypertension, mental symptoms, pain in limbs, weakness, urinary retention are common. Tachycardia, hypertension, sweating due to sympathetic overactivity. Peripheral neuropathy also occur due to axonal degeneration. Proximal muscle weakness with absent reflex, cranial nerves involvement is also seen. Sudden death due to respiratory, bulbar MS paralysis, arrhythmias, sympathetic overactivity is common. Neuropsychiatric manifestations like anxiety, depression, insomnia, hallucination can occur. Seizure disorder are due to neurological manifestation of porphyria, or due to hyponatraemia. Porphyria may involve hypothalamus and cause SIADH (Syndrome of inappropriate anti-diuretic hormone). Persistent hypertension and impaired renal function may also occur.

Treatment of porphyria includes i.v. glucose - 300 g/day for acute attack i.v. haeme is specific for reducing porphyrin precursor excretion. Haeme daily for 4 days. Narcotic analgesic for abdominal pain, phenothiazines for nausea and vomiting. Seizure is treated with clonazepam as all antiepileptics except bromides exacerbate AIP. Seizures are controlled by treating underlying hyponatraemia by giving hypertonic 3% N. saline, fluid restriction. Respiratory MS weakness requires ventilatory support. Fate of recovery depends on the degree of neuronal damages and requires months to years of treatment. Identification and avoidance of provocating factors especially drugs like barbiturate, sulphonamides, ergot, alcohol, etc. may prevent further attacks. Cyclical attacks of porphyria in women are treated with luteinizing hormone releasing hormone analogue.

REFERENCES

1.R-Desnick. Principle of int. Medicine 2001; 14 : 2012-58. Mc. Graw Hill Publication, New York.
2.Anderson KE. Gnrh analogue prevents cyclical attacks of porphyria. Arch Intermed 1990; 150 : 1469-92.

3.Desnick R, Anderson KE. Porphyrias in haematology. Basic principles and practices 1995; 2nd Ed. : 523-45. Churchill Livingstone, New York.

4.Mustajoki P, Nordmany. Early administration of haeme argirate for acute porphyria attacks. Ann Intern Ned 1993; 153 : 2004-30.

5.Plewinska N ET ALL. Delta aminolevulinate dehydratase deficient porphyria. Am J Human Genetics 1991; 49 : 167-77.

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