Hashimoto's thyroiditis--a rare but treatable cause of encephalopathy in children.

Hashimoto's encephalopathy is a very rare complication of Hashimoto's thyroiditis. It is a progressive or relapsing encephalopathy associated with elevation of thyroid specific autoantibodies. Patients usually present when euthyroid and this diagnosis should be considered in any unexplained encephalopathy or progressive cognitive decline in the euthyroid patient.     

Cysts of the ejaculatory system: a report of two cases

We report two cases of rare cystic dilatations of the ejaculatory system. In case 1, a 6-month-old boy was referred to us for the management of recurrent epididymo-orchitis (E-O) complicating open drainage and a colostomy was performed elsewhere for a purulent rectal discharge thought to be rectal duplication. Diagnostic imaging showed a retrovesical cyst. Urethrocystoscopy showed a swelling of the verumontanum. No fistula was seen between the cyst and rectum on colonoscopy. At laparotomy, both ejaculatory ducts and seminal vesicles were found to be fused into a mass with cystic dilatation of the ejaculatory duct. Intraoperative histopathology of the cyst identified a metaplastic epithelial lesion. The cyst was excised with bilateral vasoligation. Since surgery, 8 years ago, urination and defecation have been normal. In case 2, a 4-month-old boy presented with fever and a swollen right scrotum. Ultrasonography showed a retrovesical cyst. Right grade IV vesicoureteral reflux diagnosed on voiding cystourethrography was treated by ureter reimplantation (Cohen) but complicated by recurrent E-O. Urethrocystoscopy with retrograde contrast via the utriculus showed that the cyst opened on the verumontanum, that both ejaculatory ducts opened into the cyst, and there was reflux into the right vas deferens. Right vasoligation alone was performed through a scrotal approach. Although the cyst was not excised, there has been no recurrence of E-O nor enlargement of the cyst for 6 years. Cysts of the ejaculatory system should be considered in the etiology of recurrent E-O in prepubertal children and a high index of awareness is recommended.     

Hashimoto's thyroiditis – a rare but treatable cause of encephalopathy in children

Hashimoto's encephalopathy is a very rare complication of Hashimoto's thyroiditis. It is a progressive or relapsing encephalopathy associated with elevation of thyroid specific autoantibodies. Patients usually present when euthyroid and this diagnosis should be considered in any unexplained encephalopathy or progressive cognitive decline in the euthyroid patient.     

Irritable bowel syndrome: the commonest cause of recurrent abdominal pain in children

Apley, working in Bristol, UK, defined recurrent abdominal pain (RAP) in 1958. After extensive investigations, he found that 8% of children presenting to his clinic with RAP had an organic pathology. The aims of this study were to identify (1) causes of RAP using modern methodology, (2) factors associated with organic RAP and (3) children with none-organic RAP who fulfill the diagnostic criteria for irritable bowel syndrome (IBS). Children, aged over 3 years, presenting with RAP were prospectively recruited to this study. They had a detailed questionnaire completed, a full examination with screening tests (blood for coeliac screen, Helicobacter pylori antibody titre, inflammatory markers, serum amylase, liver function tests, and full blood count, urine and stool analyses and abdominal ultrasonography). Endoscopy and oesophageal pH monitoring were performed if clinically indicated. IBS was diagnosed if the child had no organic pathology and fulfilled the Rome II criteria. Out of 103 children (median age of 10 years, mean 10.04, SD ±3.44,), 31 children (30%) had organic pathologies. Factors associated with organic pain were nocturnal symptoms (P<0. 01) and abdominal tenderness (P<0.005) and with non-organic pain were periumbilical locality (P<0.002), pain alleviation on defaecation (P<0.04) and low fibre diet (P<0.005). Of children with non-organic pain, 37/52 (51%) fulfilled the criteria for IBS (36% of the total). Conclusion:of children presenting with recurrent abdominal pain in a hospital setting, 30% have a diagnosable organic aetiology compared to 8% in Apleys time. Irritable bowel syndrome, however, may be the commonest cause of recurrent abdominal pain and should be considered.Abbreviations CRP C-reactive protein - GORD gastro-oesophageal reflux disease - IBS irritable bowel syndrome - RAP recurrent abdominal pain     

Raynaud's phenomenon of the nipple: a treatable cause of painful breastfeeding

Maurice Raynaud first described the vasospasm of arterioles in 1862, and Raynaud's phenomenon is now felt to be common, affecting up to 20% of women of childbearing age. Raynaud's phenomenon has been reported to affect the nipples of breastfeeding mothers and is recognized by many lactation experts as a treatable cause of painful breastfeeding. In 1997, Lawlor-Smith and Lawlor-Smith reported 5 women with Raynaud's phenomenon associated with breastfeeding, but there are few other case reports, and none report the possible relationship between Raynaud's phenomenon of the nipple and previous breast surgery. We report 12 women who breastfed 14 infants, all of whom were seen in 1 pediatric practice and 1 lactation consultation center in San Francisco, California, within the past 3 years. Of the 12 women, 11 were seen between June 2002 and May 2003. All women suffered from extremely painful breastfeeding, with symptoms precipitated by cold temperatures and associated with blanching of the nipple followed by cyanosis and/or erythema. Poor positioning and poor attachment or latch may cause blanching of the nipple and pain during breastfeeding, but 10 of the 12 mothers were evaluated by experienced lactation consultations, who were sure that inappropriate breastfeeding techniques were not contributing factors. Because the breast pain associated with Raynaud's phenomenon is so severe and throbbing, it is often mistaken for Candida albicans infection. It is not unusual for mothers who have Raynaud's phenomenon of the nipple to be treated inappropriately and often repeatedly for C albicans infections with topical or systemic antifungal agents. Eight of our 12 mothers and their infants received multiple courses of antifungal therapy without relief before the diagnosis was made. To diagnose Raynaud's phenomenon accurately, additional symptoms such as precipitation by cold stimulus, occurrence of symptoms during pregnancy or when not breastfeeding, and biphasic or triphasic color changes must be present. All our mothers experienced precipitation of symptoms by cold stimuli and demonstrated biphasic or triphasic color changes, and 6 of the 12 experienced symptoms during pregnancy. Interestingly 3 of 12 mothers also reported a history of breast surgery, including 1 mother who had a fibroadenoma removed and 2 who had breast-reduction surgery. The association between breast surgery/implants and autoimmune disease, including Raynaud's phenomenon, has been discussed extensively, but the association of Raynaud's phenomenon of the nipple during breastfeeding has not been reported previously. Given the small numbers in the study, it is uncertain as to whether this may be a precipitating factor in developing Raynaud's phenomenon. Treatment options include methods to prevent or decrease cold exposure, avoidance of vasoconstrictive drugs/nicotine that could precipitate symptoms, and pharmacologic measures. There are reports in the lay press of the use of herbal medicines, aerobic exercise, and dietary supplements, but because most women with painful breastfeeding require immediate relief of the pain to continue breastfeeding successfully, it is important to offer a treatment plan that will alleviate the pain quickly. Nifedipine, a calcium channel blocker, has been used to treat Raynaud's phenomenon because of its vasodilatory effects. Very little of the medication can be demonstrated in breast milk and thus is safe to use in breastfeeding mothers. Of the 12 mothers in our series, 6 chose to use nifedipine, and all had prompt relief of pain. Only 1 mother developed side effects from nifedipine. Pediatricians and lactation consultants should be aware of this treatable cause of painful breastfeeding and should specifically question their patients, because most mothers will not provide this information to the breastfeeding consultant. Prompt treatment will allow mothers to continue to breastfeed pain free while avoiding unnecessary antifungal therapy.     

Chronic recurrent headaches in children.

Chronic recurrent headaches in children can be classified into distinct categories based on a careful history and physical examination. Migraine and muscle contraction headaches are common in the pediatric population. Laboratory studies should be limited to those individuals who have other signs or symptoms accompanying headaches that raise concern. Reassurance about the underlying pathophysiology of vascular or muscle contraction headaches, their benign nature, and favorable prognosis may not only relieve associated anxiety that may produce or prolong headache, but also may relieve the headache itself. Symptomatic mild analgesics and behavioral medicine therapy are often sufficient, although occasionally prophylactic pharmacotherapy is required. The long-term prognosis for children with chronic recurrent headaches is generally favorable.     

Occult constipation: faecal retention as a cause of recurrent abdominal pain in children

Recurrent abdominal pain (RAP) in children is generally believed to be functional. In practice, many children with RAP become pain-free with laxative therapy. The aims of the study were to establish the role of (occult) constipation in RAP and to investigate whether patients diagnosed with (occult) constipation could be identified by history and physical examination. During 2 years, all patients (age 4–16 years, secondary referral) fulfilling Apley criteria of RAP were included. After exclusion of gastrointestinal infections and food intolerance, laxatives were advised when pain persisted. (Occult) constipation was defined as ‘abdominal pain disappearing with laxative treatment and not reappearing within a 6 month follow up period’; ‘occult constipation’ was diagnosed in patients who did not fulfil the Rome criteria of constipation. Two hundred children (87 M; median age 8.8 years) were evaluated. (Occult) constipation was found in 92 patients (46 %). Of these, 18 had considerable relief of pain when treated for a somatic cause but experienced complete relief only after laxative measures; they were considered to have two diagnoses. Using multivariate analysis, a simple model was developed with cystitis in past history, early satiety and flatulence as predictors for (occult) constipation. The risk of (occult) constipation ranged from 18/58 if no predictor was present to 4/4 if all three were present. Conclusion: Laxatives played a pivotal role in the recovery of patients with RAP. We developed a simple model to identify patients at risk of having (occult) constipation.     

Spinal intramedullary neuroepithelial (ependymal) cyst. A rare cause of treatable acute para paresis

An 8-yr-old female child presented with acute onset of severe pain in the lower limbs and difficulty in walking. Spine MRI showed hyperintense signals on T2 weighted images at T2-T3 level, which was intramedullary in location. The patient was operated and histopathology reported as, neuroepithelial cyst. Spinal intramedullary neuroepithelial cysts are rare. Spinal cord compression due to the cyst is very uncommon and because of its rarity the present case is being reported. The clinical feetures, embryogenesis and literature were reviewed briefly.     

Hypercalciuria as a cause of persistent or recurrent haematuria.

Of 91 children with idiopathic persistent or recurrent haematuria, eight also had hypercalciuria. This was transient in three and persistent in five. Persistent hypercalciuria was a rare cause of microscopic haematuria (two of 80), but common in association with gross haematuria (three of 11).     

Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia

The association of progressive episodic dystonia and learning disability with distinctive neuroimaging findings may lead to consideration of atypical Pantothenate Kinase Associated Neurodegeneration (PKAN) and investigations directed towards that diagnosis. Recent reports indicate that deficiency of dihydrolipoamide acetyltransferase, the E2 component of the pyruvate dehydrogenase complex, may present similarly, and that this disorder should also be considered in the differential diagnosis. We describe two sisters with early onset episodic dystonia and pyruvate dehydrogenase deficiency caused by defects in the E2 subunit. Both have neuroimaging features similar to previously described patients and have mutations in the DLAT gene. As this condition is potentially treatable with a ketogenic diet, the possibility of this diagnosis should be considered in similar cases.