Entrapment of subscapular artery by the splitting of radial nerve- putative clinical implications.

The third part of the axillary artery has an intimate relationship with the cords of the brachial plexus. The subscapular artery, the largest branch of the axillary artery, arises from its third part. The radial nerve is a branch of the posterior cord of the brachial plexus and its supplies the extensors of the arm, forearm and dorsum of the hand. During routine undergraduate dissection of the axilla of a formalin-fixed cadaver of about 70 years, the subscapular artery was found sandwiched between two divisions of the radial nerve. These anterior and posterior divisions of the radial nerve arose immediately after the formation of the radial nerve and encircled the subscapular artery and fused to form a single nerve subsequently. This variant anatomy can lead to conditions like subscapular entrapment causing ischemia of the scapular region and radial nerve compression causing weakness of the extensors of the upper limb. Injury to the nerve and vessel can occur while performing diagnostic and therapeutic procedures in the area. Knowledge of these variations provides a precautious approach by surgeons and other interventionists while working on this area.

Synthesis of silver nanoparticles using Emilia sonchifolia plant for treatment of bloodstream diseases caused by Escherichia coli.

OBJECTIVES: Among infectious diseases, bloodstream infection (BSI) caused by gram-negative bacteria (E. coli) is the leading cause of death worldwide. However, the bacteria have produced resistance to many of these antibiotics. Thus, the present study aimed to develop silver nanoparticles (AgNPs) loaded with Emilia sonchifolia (ES) extract (ES-AgNPs) to treat BSI efficiently. METHODS: AgNPs were synthesized by reduction of silver nitrate (AgNO3) solution by ES extract. Furthermore, these ES-AgNPs were characterized for particle size and zeta potential, crystallinity by powder X-ray diffraction (P-XRD) technique, in vitro antibacterial activity, time-kill assay, film bio adhesion, and fluorescence assay. RESULTS: Surface plasmon resonance (SPR) has been used to confirm the formation of AgNPs by seeing a shift in colour to dark-brown. The ES-AgNPs displayed a mean particle size of 137±3nm (PDI of 0.168±0.02) and zeta potential of 18.2±0.8mV. Furthermore, according to P-XRD results, the developed AgNPs are highly crystalline. The ES-AgNPs showed effective antibacterial action against E. coli with minimum inhibitory concentrations (MIC) and minimum bactericidal concentrations (MBC) of 0.4±0.02µg/mL and 0.8±0.03µg/mL, respectively. In addition, ES-AgNPs inhibited biofilm formation and bacterial adhesion in a dose-dependent manner with 100% inhibition obtained in 48h at MBC. CONCLUSIONS: Present research work revealed that the ES-AgNPs obtained by green synthesis holds a prominent antibacterial activity in the treatment of BSIs caused by E. coli and they may be used as a competent substitute for current treatments. However, further, in vivo antibacterial studies are required to establish its efficacy in the treatment of BSIs.

Imaging pitfalls in paediatric posterior fossa neoplastic and non-neoplastic lesions.

Paediatric posterior fossa lesions can have much overlap in their clinical and radiological presentation. There are, however, a number of key imaging features that can help the reading radiologist to distinguish tumours from important tumour mimics which are often inflammatory or metabolic entities. This pictorial review provides a number of important cases that proved challenging on imaging and illustrates some common pitfalls when interpreting lesions in the posterior fossa in children. Not everything that is abnormal will be a tumour, but often other causes are overlooked and misinterpreted as tumours, leading to great morbidity for that child. This article highlights some lesions that were mistaken as tumours and will introduce the reader to less commonly seen pathologies which are important to consider on a differential list for this location.

Elotuzumab-based maintenance therapy following autologous stem cell transplant in multiple myeloma deepens post-transplant responses.

BACKGROUND: Post-transplant maintenance provides progression-free survival benefit in multiple myeloma (MM). Here we report our institution's experience with elotuzumab-based maintenance following autologous stem cell transplant. METHODS: We retrospectively evaluated the outcomes of MM patients who were started on elotuzumab-based maintenance (elotuzumab/lenalidomide/dexamethasone, elotuzumab/bortezomib/dexamethasone, or elotuzumab/bortezomib/methylprednisolone) following transplant (N = 7). Baseline characteristics, treatment response, survival, and adverse events were reviewed. RESULTS: Median age was 68 (56-81) years at the time of transplant, and median lines of induction therapy was 2 (1-6). Three patients (42.9%) had high-risk cytogenetics and five (71.4%) had stage II or greater disease at diagnosis. At a median follow-up of 24 months (12-50), five patients (71.4%) had improvement of quality of response, with a combined CR or VGPR rate increasing from 57.1% to 100% (CR = 3, VGPR = 4). All patients were alive without relapse or progression at the time of this analysis. Grade 3-4 adverse events were observed in three (42.9%) patients. None of the patients discontinued the treatment due to intolerance. CONCLUSIONS: Our study demonstrates that elotuzumab-based maintenance may deepen response post-transplant in MM and can be safely administered even in older patients. Given its unique action and rare side effects, further studies of elotuzumab in the post-transplant setting are warranted.

Intravenous thrombolysis for large vessel or distal occlusions presenting with mild stroke severity.

BACKGROUND AND PURPOSE: We investigated the effectiveness of intravenous thrombolysis (IVT) in acute ischaemic stroke (AIS) patients with large vessel or distal occlusions and mild neurological deficits, defined as National Institutes of Health Stroke Scale scores < 6 points. METHODS: The primary efficacy outcome was 3-month functional independence (FI) [modified Rankin Scale (mRS) scores 0-2] that was compared between patients with and without IVT treatment. Other efficacy outcomes of interest included 3-month favorable functional outcome (mRS scores 0-1) and mRS score distribution at discharge and at 3 months. The safety outcomes comprised all-cause 3-month mortality, symptomatic intracranial hemorrhage (ICH), asymptomatic ICH and severe systemic bleeding. RESULTS: We evaluated 336 AIS patients with large vessel or distal occlusions and mild stroke severity (mean age 63 ± 15 years, 45% women). Patients treated with IVT (n = 162) had higher FI (85.6% vs. 74.8%, P = 0.027) with lower mRS scores at hospital discharge (P = 0.034) compared with the remaining patients. No differences were detected in any of the safety outcomes including symptomatic ICH, asymptomatic ICH, severe systemic bleeding and 3-month mortality. IVT was associated with higher likelihood of 3-month FI [odds ratio (OR), 2.19; 95% confidence intervals (CI), 1.09-4.42], 3-month favorable functional outcome (OR, 1.99; 95% CI, 1.10-3.57), functional improvement at discharge [common OR (per 1-point decrease in mRS score), 2.94; 95% CI, 1.67-5.26)] and at 3 months (common OR, 1.72; 95% CI, 1.06-2.86) on multivariable logistic regression models adjusting for potential confounders, including mechanical thrombectomy. CONCLUSIONS: Intravenous thrombolysis is independently associated with higher odds of improved discharge and 3-month functional outcomes in AIS patients with large vessel or distal occlusions and mild stroke severity. IVT appears not to increase the risk of systemic or symptomatic intracranial bleeding.

Aberrant bifurcation of intercostobrachial nerve in the axilla: A case report.

Intercostobrachial nerve (ICBN) studies have been undertaken by many authors as it is a highly variable structure with numerous patterns reported worldwide. ICBN is a frequently damaged structure in Axillary Lymph Node Dissection (ALND) or mastectomy. Compression of this nerve, due to the enlargement of axillary lymph nodes from cancer breast may be presented as referred pain along the medial side of arm. Different patterns on the course and distribution of the ICBN have been described in literature. We encountered a lesser known variation of the ICBN where it pierced the second intercostal space as a single trunk and immediately divided into two branches. The putative clinical implications of this aberrant bifurcation are of value in significantly diminishing complications such as pain and sensory disturbances presenting after mastectomy and ALND. The findings of the presentation may be of use by surgeons and interventionists in approaching the area in a more precautious manner.

Palatine tonsil SUVmax on FDG PET-CT as a discriminator between benign and malignant tonsils in patients with and without head and neck squamous cell carcinoma of unknown primary.

AIM: To analyse the maximum standardised uptake value (SUVmax) ratio between tonsils in patients with and without tonsillar carcinoma to determine useful diagnostic thresholds. MATERIALS AND METHODS: Positron-emission tomography (PET)/computed tomography (CT) examinations of patients with suspected head and neck squamous cell carcinoma (SCC) and controls from April 2013 to September 2016 were reviewed retrospectively. Tonsillar SUVmax ratios (ipsilateral/contralateral for malignant tonsils, maximum/minimum for patients without [controls]) were calculated and used to construct a receiver operating characteristic (ROC) curve. RESULTS: Twenty-five patients had tonsillar carcinoma (mean SUVmax ratio of 2, range 0.89-5.4) and 86 patients acted as controls (mean SUVmax ratio of 1.1, range 1-1.5). Using the ROC, the most accurate SUVmax ratio for identifying malignancy was >1.2 (77% sensitivity, 86% specificity). A potentially more clinically useful SUVmax ratio is ≥1.6 with 62% sensitivity and 100% specificity. CONCLUSION: An SUVmax ratio between tonsils of ≥1.6 is highly suspicious for SCC and could be used to direct site of biopsy. Some malignant tonsils had normal FDG uptake; therefore, PET/CT should not be used to exclude tonsillar cancer. Minor asymmetrical uptake is frequently seen in non-malignant tonsils and does not necessarily require further investigation. Due to the single centre nature of this study and the recognised variation in SUV measurements between PET scans, other centres may need to develop their own cut-offs.

Impact of intravenous thrombolysis and emergent carotid stenting on reperfusion and clinical outcomes in patients with acute stroke with tandem lesion treated with thrombectomy: a collaborative pooled analysis.

BACKGROUND AND PURPOSE: Tandem anterior circulation lesions in the setting of acute ischemic stroke (AIS) are a complex endovascular situation that has not been specifically addressed in trials. We determined the predictors of successful reperfusion and good clinical outcome at 90 days after mechanical thrombectomy (MT) in patients with AIS with tandem lesions in a pooled collaborative study. METHODS: This was a retrospective analysis of consecutive patients presenting to 18 comprehensive stroke centers with AIS due to tandem lesion of the anterior circulation who underwent MT. RESULTS: A total of 395 patients were included. Successful reperfusion (modified thrombolysis in cerebral infarction score 2b-3) was achieved in 76.7%. At 90 days, 52.2% achieved a good outcome (modified Rankin Scale score 0-2), 13.8% suffered a parenchymal hematoma and 13.2% were dead. Lower National Institutes of Health Stroke Scale score [odds ratio (OR), 1.26; 95% confidence intervals (CI), 1.07-1.48, P = 0.004], Alberta Stroke Program Early CT Score ≥7 (OR, 2.00; 95% CI, 1.07-3.43, P = 0.011), intravenous thrombolysis (OR, 1.47; 95% CI, 1.01-2.12, P = 0.042) and stenting of the extracranial carotid lesion (OR, 1.63; 95% CI, 1.04-2;53, P = 0.030) were independently associated with successful reperfusion. Lower age (OR, 1.58; 95% CI, 1.26-1.97, P < 0.001), absence of hypercholesterolemia (OR, 1.77; 95% CI, 1.10-2.84, P = 0.018), lower National Institutes of Health Stroke Scale scores (OR, 2.04; 95% CI, 1.53-2.72, P < 0.001), Alberta Stroke Program Early CT Score ≥7 (OR, 2.75; 95% CI, 1.24-6.10, P = 0.013) and proximal middle cerebral artery occlusion (OR, 1.59; 95% CI, 1.03-2.44, P = 0.035) independently predicted a good 90-day outcome. CONCLUSIONS: Intravenous thrombolysis and emergent stenting of the extracranial carotid lesion were predictors of a successful reperfusion after MT of patients with AIS with tandem lesion of the anterior circulation.

Analysis of a self-propelling sheet with heat transfer through non-isothermal fluid in an inclined human cervical canal.

The present theoretical analysis deals with biomechanics of the self-propulsion of a swimming sheet with heat transfer through non-isothermal fluid filling an inclined human cervical canal. Partial differential equations arising from the mathematical modeling of the proposed model are solved analytically. Flow variables like pressure gradient, propulsive velocity, fluid velocity, time mean flow rate, fluid temperature, and heat-transfer coefficients are analyzed for the pertinent parameters. Striking features of the pumping characteristics are explored. Propulsive velocity of the swimming sheet becomes faster for lower Froude number, higher Reynolds number, and for a vertical channel. Temperature and peak value of the heat-transfer coefficients below the swimming sheet showed an increase by the increment of Brinkmann number, inclination, pressure difference over wavelength, and Reynolds number whereas these quantities decrease with increasing Froude number. Aforesaid parameters have shown opposite effects on the peak value of the heat-transfer coefficients below and above the swimming sheet. Relevance of the current results to the spermatozoa transport with heat transfer through non-isothermal cervical mucus filling an inclined human cervical canal is also explored.

Emergency department utilization by haemophilia patients in United States.

INTRODUCTION: Patients with haemophilia are prone to medical emergencies. Emergency departments (ED) often do not have a haematologist on-call for consultation. AIM: The aim of this study was to determine the utilization of ED by patients with haemophilia. METHODS: Retrospective review of the 'National ED Database Sample' for years 2006-2013 was performed. Patient and hospital demographics were collected. Hospital charges were projected to national levels using discharge-weighted variables. RESULTS: During the 8-year study period, haemophilia patients made 162 982 ED visits. This represents 0.016% of total ED visits nationwide. Children utilized ED the most. More than half of patients resided in metropolitan cities; 20% had over $63 000 annual household income. Government insurances were the largest primary payers; 30% had private insurance. In the year 2012, 4488 ED visits with 21 000 diagnoses codes were recorded. Mean age was 29 years. Cardiovascular were the most frequently reported complaints followed by injuries, haemorrhages and sepsis. Seventy percent patients were treated and released from the ED. Two patients died in ED, whereas 35 after admission to hospital. Cause of death included Sepsis (n = 26) and brain haemorrhage (n = 4). Among children, injuries were the most frequent complaints followed by joint/soft tissue disorders; fevers and central line complications. Average charge per visit at private vs. public hospital was $2988 and $2254 respectively (P = 0.03). National estimate of total charges was $60 million. CONCLUSION: Patients with haemophilia have tendency to utilize ED. Hypertension was the single most common presenting complaint in adults. No deaths were reported in children from brain haemorrhage.

Reverse genetics based rgH5N2 vaccine provides protection against high dose challenge of H5N1 avian influenza virus in chicken.

An inactivated vaccine was developed using the rgH5N2 virus (6 + 2 reassortant) generated by plasmid based reverse genetics system (RGS) with WSN/33/H1N1 as backbone virus. Following mutation of the basic amino acid cleavage site RRRKKR*GLF to IETR*GLF, the H5-HA (haemagglutinin) gene of the selected donor H5N1 virus (A/chicken/West Bengal/80995/2008) of antigenic clade 2.2 was used along with the N2-NA gene from H9N2 field isolate (A/chicken/Uttar Pradesh/2543/2004) for generation of the rgH5N2 virus. A single dose (0.5 ml/bird) of the inactivated rgH5N2 vaccine protected 100% of the vaccinated chickens (n = 10) on 28(th) dpv (early challenge) and 90% of the vaccinated chickens (n = 10) on 200(th) dpv (late challenge) against high dose challenge with HPAI virus (10(9) EID50/bird). Challenge virus shedding via oropharynx and cloaca of the vaccinated chickens was detectable by realtime RT-PCR during 1-5 dpc and 1-9 days dpc in the early and the late challenge, respectively. The protective level of antibodies (mean HI titre > 128) was maintained without booster vaccination for 200 days. The present study provides the experimental evidence about the extent of protection provided by a reverse genetics based vaccine for clade 2.2 H5N1 viruses against challenge with high dose of field virus at two different time points (28 dpv and 200 dpv). The challenge study is uniquely different from the previous similar experiments on account of 1000 times higher dose of challenge and protection at 200 dpv. The protection and virus shedding data of the study may be useful for countries planning to use H5 vaccine in poultry especially against the clade 2.2 H5N1 viruses.

A mathematical model for the flow of a Casson fluid due to metachronal beating of cilia in a tube.

A mathematical model is developed to study the transport mechanism of a Casson fluid flow inspired by the metachronal coordination between the beating cilia in a cylindrical tube. A two-dimensional system of nonlinear equations governing the flow problem is formulated by using axisymmetric cylindrical coordinates and then simplified by employing the long wavelength and low Reynolds number assumptions. Exact solutions are derived for the velocity components, the axial pressure gradient, and the stream function. However, the expressions for the pressure rise and the volume flow rate are evaluated numerically. The features of the flow characteristics such as pumping and trapping are illustrated and discussed with the help of graphs. It is observed that the volume flow rate is influenced significantly by the width of plug flow region H p as well as the cilia length parameter ε. The analysis is also applied and compared with the estimated value of the volume flow rate of epididymal fluid in the ductus efferentes of the human male reproductive tract.

Tracking camera control in endoscopic dacryocystorhinostomy surgery.

OBJECTIVES: Poor camera control during endoscopic dacryocystorhinostomy (EnDCR) surgery can cause inadequate visualisation of the anatomy and suboptimal surgical outcomes. This study investigates the feasibility of using computer vision tracking in EnDCR surgery as a potential formative feedback tool for the quality of endoscope control. DESIGN: A prospective cohort analysis was undertaken comparing junior versus senior surgeons performing routine EnDCR surgery. Computer vision tracking was applied to endoscopic video footage of the surgery: Total number of movements, camera path length in pixels and surgical time were determined for each procedure. A Mann-Whitney U-test was used to test for a significant difference between juniors and seniors (P < 0.05). SETTING: Operating theatre. PARTICIPANTS: Ten junior surgeons (<20 completed procedures) and 10 senior surgeons (>100 completed procedures). MAIN OUTCOME MEASURES: Total number of movements of the endoscope per procedure. Path length of the endoscope per procedure. RESULTS: Twenty videos, 10 from junior surgeons and 10 from senior surgeons were analysed. Feasibility of our tracking system was demonstrated. Mean camera path lengths were significantly different at 119,329px (juniors) versus 43,697px (seniors), P ≪ 0.05. The mean number of movements was significantly different at 9134 (juniors) versus 3690 (seniors), P ≪ 0.05. These quantifiable differences demonstrate construct validity for computer vision endoscope tracking as a measure of surgical experience. CONCLUSIONS: Computer vision tracking is a potentially useful structured and objective feedback tool to assist trainees in improving endoscope control. It enables juniors to examine how their pattern of endoscope control differs from that of seniors, focusing in particular on sections where they are most divergent.

Determinants of severity of menopausal symptoms among Saudi women in Riyadh city.

OBJECTIVE: To determine the relationship between sociodemographic, reproductive and lifestyle factors and the severity of menopausal symptoms among Saudi women attending a university hospital in Riyadh city. METHODS: A cross-sectional survey was carried out during 2010 in Riyadh city. Women aged > 40 years attending or accompanying their relatives in outpatient clinics in King Khalid University Hospital were invited to participate in the study. The English version of the Menopause Rating Scale (MRS) was used to assess the severity of menopausal symptoms after translation and validation on a sample of 30 women. RESULTS: A total of 490 women were included. Severe urogenital symptoms were more common among housewives compared to working women (odds ratio (OR) 2.27, 95% confidence interval (CI) 1.12-4.68) and women living in apartments or small houses compared to women living in villas (OR 1.70, 95% CI 1.90-2.64). Nulliparous women had more severe somatic symptoms compared to those who had been pregnant (OR 2.83, 95% CI 1.10-7.69). Women who exercised regularly were less likely to experience severe somatic and urogenital symptoms (OR 0.57, 95% CI 0.37-0.86; OR 0.65, 95% CI 0.44-0.98, respectively). Obese women experienced more severe psychosomatic symptoms compared to those of normal body mass index (OR 2.01, 95% CI 0.96-4.93). CONCLUSION: Women who are housewives, living in apartments, not exercising regularly and obese are more likely to suffer from severe symptoms of menopause.

Analysis of Eyring-Powell fluid in helical screw rheometer.

This paper aims to study the flow of an incompressible, isothermal Eyring-Powell fluid in a helical screw rheometer. The complicated geometry of the helical screw rheometer is simplified by "unwrapping or flattening" the channel, lands, and the outside rotating barrel, assuming the width of the channel is larger as compared to the depth. The developed second order nonlinear differential equations are solved by using Adomian decomposition method. Analytical expressions are obtained for the velocity profiles, shear stresses, shear at wall, force exerted on fluid, volume flow rates, and average velocity. The effect of non-Newtonian parameters, pressure gradients, and flight angle on the velocity profiles is noticed with the help of graphical representation. The observation confirmed the vital role of involved parameters during the extrusion process.

Peroral cholangioscopy facilitates targeted tissue acquisition in patients with suspected cholangiocarcinoma.

AIM: Biliary strictures that are suspicious for cholangiocarcinoma (CCA) are commonly encountered in clinical practice in patients with and without primary sclerosing cholangitis (PSC). A definitive histologic diagnosis of CCA via endoscopic retrograde cholangiography (ERCP) is often not obtainable with standard biliary brush cytology. Peroral cholangioscopy is an additional tool to help provide a diagnosis of CCA in patients with suspicious biliary strictures. Aim of the study was to assess the use of peroral cholangioscopy in patients with and without PSC and indeterminate biliary strictures. METHODS: Retrospective study. RESULTS: 25 patients were included in the study. All patients underwent ERCP with peroral cholangioscopy. Tissue samples obtained included routine cytology, fluorescent in-situ hybridization, and cholangioscopic-directed forceps biopsies. The operating characteristics of cholangioscopy to detect malignancy in 18 PSC patients with suspected cholangiocarcinoma were a sensitivity of 75%, specificity of 55%, and a positive predictive value (PPV) of 23%, and a negative predictive value of 92%. In 7 non-PSC patients with suspected cholangiocarcinoma these values sensitivity=100%, 25%, 50%, and NPV=100%, respectively. The overall operating characteristics of cholangioscopy to detect malignancy in all 25 patients with suspected cholangiocarcinoma were: sensitivity of 86%, specificity of 50%, PPV of 32%, and NPV of 93%. CONCLUSION: Cholangioscopy helps identify sites for tissue acquisition in PSC and non-PSC patients with biliary strictures suspicious for malignancy.

Mechanical study of blood flow through a permeable capillary with slippery wall.

This research presents the mechanical behavior of blood flow through capillary having smooth inner surface. In this study modelling of blood flow via permeable and lubricated capillary caused by nutrients re-absorption has been done by the help of laws of momentum and mass. The nutrients re-absorption is assumed to be constant and inner walls of the capillary are smooth and slippery therefore slip condition on the velocity and constant rate in vertical direction at the wall has considered. The Kelvin Voigt model is employed to simulate blood flow via capillaries, and results for pressure, blood flow pattern, and shear force necessary for blood flow are discovered by recursive approach. Numerical results for nutrient re-absorption from the blood and impact of smooth and slippery surfaces on blood flow are shown through graphs. The novelty of the research invents that the smoothness and slickness of capillary wall is a crucial presumption to examine the blood as non-Newtonian fluid via capillary.

Adult attention-deficit hyperactivity disorder is associated with alterations in circadian rhythms at the behavioural, endocrine and molecular levels.

Attention-deficit hyperactivity disorder (ADHD) in adults is associated with impaired sleep, and it has been postulated that this impairment may contribute to the psychopathology of this common condition. One key driver of sleep/wake cycles is the circadian system, which at the molecular level consists of a series of transcriptional feedback loops of clock genes, which in turn produce endocrine, physiological and behavioural outputs with a near 24 h periodicity. We set out to examine circadian rhythms at the behavioural, endocrine and molecular levels in ADHD. Adults with ADHD as well as age- and sex-matched controls were recruited. Circadian rhythms were measured by means of actigraphy for the determination of gross motor patterns, by self-sampling of oral mucosa for assessment of rhythmic expression of the clock genes BMAL1 and PER2, and by estimation of salivary cortisol and melatonin levels. Actigraphic analysis revealed significant diurnal and nocturnal hyperactivity in the ADHD group, as well as a significant shorter period of best fit for the locomotor circadian rhythm in ADHD. BMAL1 and PER2 showed circadian rhythmicity in controls with this being lost in the ADHD group. Cortisol rhythms were significantly phase delayed in the ADHD group. These findings indicate that adult ADHD is accompanied by significant changes in the circadian system, which in turn may lead to decreased sleep duration and quality in the condition. Further, modulation of circadian rhythms may represent a novel therapeutic avenue in the management of ADHD.

Homozygous variegate porphyria presenting with developmental and language delay in childhood.

Variegate porphyria is an autosomal dominant disorder that usually presents with photosensitivity and acute neurological crises in adulthood. It is caused by heterozygous mutations in the protoporphyrinogen oxidase gene (PPOX). A rarer variant, homozygous variegate porphyria (HVP), presents in childhood with recurrent skin blisters and scarring. More variable features of HVP are short stature, brachydactyly, nystagmus, epilepsy, developmental delay and mental retardation. We describe a child who presented with nystagmus, developmental delay and ataxia, combined with a photosensitive eruption. Analysis of porphyrins in plasma, urine and stool supported a clinical diagnosis of HVP. DNA from the patient showed that he is compound heterozygous for two novel missense mutations in the PPOX coding region: c.169G>C (p.Gly57Arg) and c.1259C>G (Pro420Arg). Interestingly, cranial magnetic resonance imaging showed an absence of myelin, a feature not previously reported in HVP, which expands the differential diagnosis of childhood hypomyelinating leucoencephalopathies.