Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report.

Variegate porphyria (VP) is one of the groups of rare inherited disorders of hemoglobin synthesis called Porphyria. It has two distinct manifestations, that is, those of cutaneous and nervous system. Posterior reversible encephalopathy syndrome (PRES) is a rare complication of porphyria. It occurs due to vasogenic edema in white matter of predominantly parieto-occipital lobes, characterized by headache, visual disturbances, altered mental state, hypertension, and seizures. We report a child diagnosed with VP who presents with clinical signs and radiological manifestations suggestive of PRES. To our knowledge this has never been reported in a case of VP and only twice been reported in another type of porphyria. A 12-year-old pre-pubertal boy already diagnosed with VP presents with seizure, visual disturbance, altered mental status, headache, and hypertension. Initial brain magnetic resonance imaging (MRI) revealed bilateral increased signal intensity in parieto-occipital region. Neurological opinion suggested that the symptoms experienced by the patient seem to be a complication of porphyria. Treatment was to control hypertension and prevent use of any aggravating agents. Follow-up MRI after two weeks revealed interval reduction in disease process. Diagnosis of PRES was thus confirmed. PRES should be considered in patients presenting with symptoms typical of encephalitis/meningitis/acute disseminated encephalomyelitis in a patient suffering from porphyria. Early diagnosis is key to quick improvement and prevention of complications. Though rare in pre-pubertal patients, it should be kept as a possibility especially when patients present with hypertension. Care should be taken to not use any drugs that can trigger PRES.

The H Syndrome: A Genodermatosis.

H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures. Exophthalmos, malabsorption, renal anomalies, flexion contractions of interphalangeal joints and hallux valgus, and lytic bone lesions, as well as osteosclerosis, are also seen. If these are lacking, the constellation of additional findings should raise suspicion for H syndrome. As most of the patients reported to date with H syndrome are from traditional, low-income populations, where consanguinity is common, it is highly important to develop a cheap and affordable technique for a mutation analysis. Two siblings presented to us, diagnosed as having insulin-dependent diabetes mellitus (IDDM) since the age of eight years and progressive flexion contracture of the small joints for seven-eight years. On examination, both had short stature. One also had bilateral cervical lymphadenopathy. The female had the Tanner stage of B3P3A2 M0 and the male had the Tanner stage of prepuberty. Laboratory workup, including antinuclear antibodies, rheumatoid factor, erythrocyte sedimentation rate, thyroid profile, and Celiac serology were negative. Genetic studies confirmed the diagnosis of H syndrome.

Sub-acute Cardiac Tamponade as an Early Clinical Presentation of Childhood Systemic Lupus Erythematosus: A Case Report.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease affecting multiple systems by the process of inflammation and formation of auto-antibodies. When it presents in childhood, it is referred to as childhood systemic lupus erythematosus (cSLE). Cardiac tamponade is a rare but potentially lethal complication of cSLE, even rarer as an initial presentation. Sub-acute cardiac tamponade (medical tamponade) is a non-emergent type of cardiac tamponade which develops slowly over time and does not necessarily present with acute distress. We present the case of an 11-year-old girl who presented to the emergency department with complaints of intermittent fever, periorbital puffiness, abdominal distension, and swelling on the hands and feet. She was not in any acute distress but was vitally unstable. Cardiovascular examination revealed muffled heart sounds. Chest examination further revealed decreased breathing sounds on the left side with dull notes on percussion. Abdominal examination revealed positive shifting dullness with a distended abdomen. Blood investigations were ordered which revealed anemia and thrombocytopenia. Chest X-ray showed an enlarged cardiac silhouette. Urine detailed report showed proteinuria and hematuria. Further investigations revealed the autoimmune root of the disease. Echocardiography was ordered which showed a large collection of fluid around the posterior aspect of heart with the concomitant collapse of atrial chambers suggestive of cardiac tamponade. A diagnosis of sub-acute cardiac tamponade secondary to childhood SLE was made. The patient was started on pulse therapy of methylprednisolone followed by a low-dose regime of mycophenolate mofetil. The patient was also provided with positive pressure ventilation, hemodialysis, and invasive cardiovascular monitoring along with the instillation of intravenous fluid supplements. To our knowledge, cases of sub-acute cardiac tamponade as the only and early clinical manifestation in childhood SLE are very rare.