Truncal sensory polyneuropathy in light-chain amyloidosis.

We describe a case of truncal sensory polyneuropathy in a patient with light-chain amyloidosis. We highlight the clinical signs and differential diagnoses related to the presentation.

Is chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) in children the same condition as in adults?

This case series describes three children with chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS), an inflammatory condition characterized by a relapsing-remitting disease course responsive to steroids. The patients (two males, age 3y and 13y; one female, age 14y) presented with ataxia, dysarthria, and multiple cranial neuropathies. All patients demonstrated bilateral nodular lesions with contrast enhancement in the brainstem and cerebellum on magnetic resonance imaging, and perivascular lymphocytes and macrophages infiltrates on brain biopsies. Despite an initially good response to corticosteroids, all patients eventually became steroid-dependent or -resistant, with frequent relapses on maintenance immunosuppressive therapy. Natalizumab and intravenous immunoglobulin stopped neurological disease progression in Patient 1 but he died at 17 years from respiratory complications. Patient 2 went into remission on infliximab and intravenous methylprednisolone for several months but was then diagnosed with Epstein-Barr virus driven B-cell lymphoma 3 years after symptom onset. Patient 3 failed to respond to treatment and died 4 years after diagnosis. CLIPPERS disease in children is aggressive, with poor response to immunotherapy. Earlier use of newer immunotherapeutic agents such as natalizumab may be beneficial. Potential side effects need to be considered carefully. WHAT THIS PAPER ADDS: Paediatric chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) appears a more severe condition than previously reported in adults. Aggressive treatment before neuroaxonal loss may be required for a better outcome.

¿ES LA INFLAMACIÓN LINFOCÍTICA CRÓNICA CON REALCE PERIVASCULAR PONTINO SENSIBLE A LOS ESTEROIDES (CLIPPERS) EN LOS NIÑOS CON LA MISMA CONDICIÓN QUE EN LOS ADULTOS?: Esta serie de casos describe a tres niños con inflamación linfocítica crónica con realce pontinal perivascular sensible a esteroides (CLIPPERS), una enfermedad inflamatoria caracterizada por un curso de enfermedad recurrente-remitente sensible a los esteroides. Los pacientes (dos varones, edad 3 y 13 años, una mujer, edad 14 años) presentaron ataxia, disartria y neuropatías craneales múltiples. Todos los pacientes demostraron lesiones nodulares bilaterales con realce de contraste en el tallo cerebral y el cerebelo en imágenes de resonancia magnética y linfocitos perivasculares y infiltrados de macrófagos en biopsias cerebrales. A pesar de una respuesta inicialmente buena a los corticosteroides, todos los pacientes finalmente se volvieron dependientes de esteroides o resistentes, con recaídas frecuentes en la terapia inmunosupresora de mantenimiento. El natalizumab y la inmunoglobulina intravenosa suspendieron la progresión de la enfermedad neurológica en el paciente 1, pero falleció a los 17 años por complicaciones respiratorias. El paciente 2 entró en remisión con infliximab y metilprednisolona por vía intravenosa durante varios meses, pero luego se le diagnosticó linfoma de células B dirigido por el virus de Epstein-Barr, 3 años después del inicio de los síntomas. El paciente 3 no respondió al tratamiento y murió 4 años después del diagnóstico. La enfermedad de CLIPPERS en los niños es agresiva, con una respuesta deficiente a la inmunoterapia. El uso previo de agentes inmunoterápicos más nuevos como natalizumab puede ser beneficioso. Los posibles efectos secundarios deben considerarse cuidadosamente.

A INFLAMAÇÃO LINFOCÍTICA CRÔNICA COM REALCE PERIVASCULAR PONTINO RESPONSIVA A ESTERÓIDES (CLIPPERS) É A MESMA CONDIÇÃO EM CRIANÇAS E ADULTOS?: Esta série de casos descreve três crianças com inflamação linfocítica crônica com realce perivascular pontino responsiva a esteróides (CLIPPERS), uma condição inflamatória caracterizada por uma doença com curso remissivo-recidivante responsive a esteróides. Os pacientes (dois meninos, idades 3 e 13 anos; uma menina, idade 14 anos) apresentaram ataxia, disartria, e múltiplas neuropatias craniais. Todos os pacientes demonstraram lesões nodulares bilaterais com realce no tronco cerebral e cerebelo ao exame ne ressonância magnética, e infiltrados perivasculares de linfócitos e macrófagos nas biópsias cerebrais. Apesar de uma resposta inicialmente boa aos corticoesteróides, todos os pacientes eventualmente se tornaram esteróide-dependentes ou resistentes, com frequentes recidivas com manutenção de imunoterapia supressora. Natalizumab e imunoglobulina intravenosa interromperam a progressão neurológica da doença no Paciente 1, mas ele veio a óbito na idade de 17 anos devido a complicações respiratórias. O Paciente 2 entrou em remissão com infliximab e metilprednosolona intravenosa por vários meses, mas foi então diagnosticado com linfoma de células B causado por virus Epstein-Barr 3 anos após o início dos sintomas. O Paciente 3 não respondeu ao tratamento e veio a óbito 4 anos após o diagnóstico. Patient 2 went into remission on infliximab and intravenous methylprednisolone for several months but was then diagnosed with Epstein-Barr virus driven B-cell lymphoma 3 years after symptom onset. Patient 3 failed to respond to treatment and died 4 years after diagnosis. INTERPRETAÇÃO: A doença CLIPPERS em crianças é agressiva, com pouca resposta à imunoterapia. O uso precoce de agentes imunoterapêuticos mais novos como natalizumab pode ser benéfico. Potenciais efeitos colaterais devem ser considerados com cautela.

Peer tutoring in a medical school: perceptions of tutors and tutees.

BACKGROUND: Peer tutoring has been described as "people from similar social groupings who are not professional teachers helping each other to learn and learning themselves by teaching". Peer tutoring is well accepted as a source of support in many medical curricula, where participation and learning involve a process of socialisation. Peer tutoring can ease the transition of the junior students from the university class environment to the hospital workplace. In this paper, we apply the Experienced Based Learning (ExBL) model to explore medical students' perceptions of their experience of taking part in a newly established peer tutoring program at a hospital based clinical school. METHODS: In 2014, all students at Sydney Medical School - Central, located at Royal Prince Alfred Hospital were invited to voluntarily participate in the peer tutoring program. Year 3 students (n = 46) were invited to act as tutors for Year 1 students (n = 50), and Year 4 students (n = 60) were invited to act as tutors for Year 2 students (n = 51). Similarly, the 'tutees' were invited to take part on a voluntary basis. Students were invited to attend focus groups, which were held at the end of the program. Framework analysis was used to code and categorise data into themes. RESULTS: In total, 108/207 (52 %) students participated in the program. A total of 42/106 (40 %) of Year 3 and 4 students took part as tutors; and of 66/101 (65 %) of Year 1 and 2 students took part as tutees. Five focus groups were held, with 50/108 (46 %) of students voluntarily participating. Senior students (tutors) valued the opportunity to practice and improve their medical knowledge and teaching skills. Junior students (tutees) valued the opportunity for additional practice and patient interaction, within a relaxed, small group learning environment. CONCLUSION: Students perceived the peer tutoring program as affording opportunities not otherwise available within the curriculum. The peer teaching program provided a framework within the medical curriculum for senior students to practice and improve their medical knowledge and teaching skills. Concurrently, junior students were provided with a valuable learning experience that they reported as being qualitatively different to traditional teaching by faculty.

Risk factors for the neurodegenerative dementias in the Western Pacific region.

The Western Pacific Region (WPR) is characterized by a group of socioeconomically, culturally, and geopolitically heterogenous countries and represents a microcosm of the global endemic of neurodegeneration. This review will chart the known risk factors for dementia across the WPR. We explore the intersection between the established risk factors for dementia including the biomedical and lifestyle (cardiovascular and metabolic disease, sleep, hearing loss, depression, alcohol, smoking, traumatic brain injury, genetics) and social determinants (social disadvantage, limited education, systemic racism) as well as incorporate neuroimaging data, where available, to predict disease progression in the WPR. In doing so, we highlight core risk factors for dementia in the WPR, as well as geographical epicentres at heightened risk for dementia, to orient future research towards addressing these disparities.

Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens.

OBJECTIVE: To report the clinical and investigative features of children with a clinical diagnosis of probable autoimmune encephalopathy, both with and without antibodies to central nervous system antigens. METHOD: Patients with encephalopathy plus one or more of neuropsychiatric symptoms, seizures, movement disorder or cognitive dysfunction, were identified from 111 paediatric serum samples referred from five tertiary paediatric neurology centres to Oxford for antibody testing in 2007-2010. A blinded clinical review panel identified 48 patients with a diagnosis of probable autoimmune encephalitis whose features are described. All samples were tested/retested for antibodies to N-methyl-D-aspartate receptor (NMDAR), VGKC-complex, LGI1, CASPR2 and contactin-2, GlyR, D1R, D2R, AMPAR, GABA(B)R and glutamic acid decarboxylase. RESULTS: Seizures (83%), behavioural change (63%), confusion (50%), movement disorder (38%) and hallucinations (25%) were common. 52% required intensive care support for seizure control or profound encephalopathy. An acute infective organism (15%) or abnormal cerebrospinal fluid (32%), EEG (70%) or MRI (37%) abnormalities were found. One 14-year-old girl had an ovarian teratoma. Serum antibodies were detected in 21/48 (44%) patients: NMDAR 13/48 (27%), VGKC-complex 7/48(15%) and GlyR 1/48(2%). Antibody negative patients shared similar clinical features to those who had specific antibodies detected. 18/34 patients (52%) who received immunotherapy made a complete recovery compared to 4/14 (28%) who were not treated; reductions in modified Rankin Scale for children scores were more common following immunotherapies. Antibody status did not appear to influence the treatment effect. CONCLUSIONS: Our study outlines the common clinical and paraclinical features of children and adolescents with probable autoimmune encephalopathies. These patients, irrespective of positivity for the known antibody targets, appeared to benefit from immunotherapies and further antibody targets may be defined in the future.

Pearls & Oy-sters: Huntington Disease Presenting as Primary Progressive Aphasia: A Case of Semantics.

We present a case of semantic variant primary progressive aphasia as the presenting feature in a patient with Huntington disease (HD). The patient initially developed progressive language impairment including impaired naming and object knowledge and single-word comprehension and then developed chorea and behavioral changes. An MRI of the brain showed left anterior temporal lobe and hippocampal atrophy. A neurologic FDG PET/CT showed reduced metabolism in the head of the left caudate nucleus. Huntingtin gene testing revealed an expansion of 39 CAG repeats in 1 allele. This case outlines the substantial overlap between the clinical presentation of HD and frontotemporal lobar degeneration syndromes and provides commentary on the investigation of these neurodegenerative diseases.

Wilson Disease: A Case Report of Psychosis Preceding Parkinsonism.

BACKGROUND A first psychotic episode requires the exclusion of toxic-metabolic, inflammatory, infective, and neoplastic causes. Wilson disease is a rare, autosomal recessive disorder of copper metabolism and can present with neuropsychiatric symptoms secondary to copper accumulation in the brain. CASE REPORT We describe the case of a 48-year-old man with parkinsonism on a background of longstanding schizophrenia and psychotic depression in the setting of previously undiagnosed Wilson disease. The common history of neuropsychiatric disturbance and neuroleptic use complicated the assessment of parkinsonism. However, close attention to the temporal appearance of symptoms and signs differentiated his case from drug-induced parkinsonism, which commonly develops hours to weeks after commencement or uptitration of antipsychotic medication. The early features of sialorrhea and dysarthria were also atypical for idiopathic Parkinson disease. The diagnosis was confirmed by serum copper testing and supported by Kayser-Fleischer rings on bedside ophthalmological examination. Magnetic resonance imaging (MRI) of the brain demonstrated copper accumulation in the basal ganglia and pons, contributing to the characteristic neurological manifestations of an akinetic-rigid syndrome with dysarthria. CONCLUSIONS Serum copper testing is easily obtained and should be considered as part of the first-line investigations for new neuropsychiatric disturbances. Although rare, Wilson disease, if diagnosed early, is a potentially treatable and reversible cause of psychosis. With advanced disease, extrapyramidal findings on examination correlate with MRI brain changes, aiding the clinical assessment in differentiating the disease from drug-induced parkinsonism.

Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur in otherwise healthy children after common viral infections such as influenza and parainfluenza. Most ANE is sporadic and nonrecurrent (isolated ANE). However, we identified a 7 Mb interval containing a susceptibility locus (ANE1) in a family segregating recurrent ANE as an incompletely penetrant, autosomal-dominant trait. We now report that all affected individuals and obligate carriers in this family are heterozygous for a missense mutation (c.1880C-->T, p.Thr585Met) in the gene encoding the nuclear pore protein Ran Binding Protein 2 (RANBP2). To determine whether this mutation is the susceptibility allele, we screened controls and other patients with ANE who are unrelated to the index family. Patients from 9 of 15 additional kindreds with familial or recurrent ANE had the identical mutation. It arose de novo in two families and independently in several other families. Two other patients with familial ANE had different RANBP2 missense mutations that altered conserved residues. None of the three RANBP2 missense mutations were found in 19 patients with isolated ANE or in unaffected controls. We conclude that missense mutations in RANBP2 are susceptibility alleles for familial and recurrent cases of ANE.

Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.

DNAJC3, a co-chaperone of BiP, is a member of the heat shock protein family. These proteins are produced in the endoplasmic reticulum (ER) to counter cell stress resulting from healthy functional protein processing. Dysregulation of unfolded proteins within the ER is implicated as a mechanism of genetic disease. Examples include Marinesco-Sjogren and Wolcott-Rallison syndromes that share similar clinical features, manifesting neurodegenerative disease and endocrine dysfunction. Recently, loss of function mutations in DNAJC3 was associated with syndromic diabetes mellitus in three families. The full phenotype included neurodegeneration, ataxia, deafness, neuropathy, adolescent-onset diabetes mellitus, growth hormone deficiency and hypothyroidism. A subsequent report of two unrelated individuals extended the phenotype to include early-onset hyperinsulinaemic hypoglycaemia. Here, we describe two siblings that recapitulate this extended phenotype in association with a homozygous novel mutation in the final exon of DNAJC3 [c.1367_1370delAGAA (p.Lys456SerfsTer85)] resulting in protein elongation predicted to abrogate the functional J domain. This report confirms DNAJC3 as a cause of syndromic congenital hyperinsulinaemic hypoglycaemia. Currently, PanelApp only includes this gene on diabetes mellitus panels. We propose DNAJC3 should be promoted from a red to a green gene on a wider number of panels to improve the diagnosis of this rare condition.

Clinical Teacher Training for health professionals: From blended to online and (maybe) back again?

BACKGROUND: The Clinical Teacher Training (CTT) programme was originally developed as an interprofessional, blended learning programme, to support health professionals working across health services within Australia, although it has also been delivered internationally. With the disruption of COVID-19, we rapidly moved to 'online only' delivery. We sought to modify the programme, ensuring that the constructivist paradigms important for our learner experience through the original blended format were maintained in the online platform. APPROACH: Consisting of 10 modules on a range of topics, the new CTT online only programme was facilitated online across 6 weeks with asynchronous and synchronous assessable activities, and provision of peer and facilitator feedback. The learning outcomes for each module were similar to the 'blended learning' format. The new programme was delivered three times throughout 2020 and completed by a total of 208 health professionals from across 10 metropolitan and rural health districts. EVALUATION: The focus of our evaluation was on the programme's final 2020 iteration, for which we had ethics approval. Participants (n = 59) were from diverse health professions, across five metropolitan and rural health districts. We prioritised the learner experience in constructing our evaluation strategy. Quantitative and qualitative data were collected by post-course questionnaire and analysed using descriptive statistics and thematic analysis. Twenty participants (34%) responded to the post-course questionnaire. Participants valued the structure, topics, clear outcomes, timeframe, online resources, small group activities, feedback and the flexibility and accessibility afforded by online only delivery. However, participants identified a need for additional 'real-time' engagement in activities. Faculty were surprised by the time required to adequately facilitate online learning, and similarly, valued the real-time interactions. IMPLICATIONS: The online only CTT programme provided an excellent, scalable framework to ensure continued provision of a relevant and accessible training resource for clinicians working in metropolitan and regional/rural health services. Learner-reported achievement of programme learning outcomes was not negatively impacted by online only delivery. Balancing these resource advantages with learner preferences and our desire to build active teaching networks, we will continue to host the majority of the programme online, while offering short face-to-face sessions within local contexts.

Genetic neuropathies presenting with CIDP-like features in childhood.

Inherited neuropathies are amongst the most common neuromuscular disorders. The distinction from chronic inflammatory demyelinating polyneuropathy (CIDP) may be challenging, considering its rarity in childhood, that genetic neuropathies may show secondary inflammatory features, and that subacute CIDP presentations may closely mimic the disease course of inherited disorders. The overlap between genetic neuropathies and CIDP is increasingly recognized in adults but rarely reported in children. Here we report 4 children with a neuropathy of subacute onset, initially considered consistent with an immune-mediated neuropathy based on suggestive clinical, laboratory and neurophysiological features. None showed convincing response to intravenous immunoglobulin therapy, leading to re-evaluation and confirmation of a genetic neuropathy in each case (including PMP22, MPZ and SH3TC2 genes). A review of the few Paediatric cases reported in the literature showed similar delays in diagnosis and no significant changes to immunomodulatory treatment. Our findings emphasize the importance of considering an inherited neuropathy in children with a CIDP-like presentation. In addition to an inconclusive response to treatment, subtle details of the family and developmental history may indicate a genetic rather than an acquired background. Correct diagnostic confirmation of a genetic neuropathy in a child is crucial for appropriate management, prognostication and genetic counselling.

Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family.

Acute necrotizing encephalopathy (ANE) typically affects young, healthy children who develop rapid-onset severe encephalopathy triggered by viral infections. This disease is more commonly reported in Japan but occurs worldwide, although it remains under-recognized in Western countries. An autosomal dominant form, ANE1, was recently identified. We report the details of a 9-year-old Caucasian female who experienced recurrent ANE episodes at the ages of 9 months and 9 years. Brain magnetic resonance imaging findings were characteristic of ANE during both episodes, although more extensive in the recent episode, which resulted in severe neurological sequelae; influenza A was identified on bronchoalveolar lavage during this episode. Interestingly, there was evidence of peripheral polyneuropathy during the recent episode, which has not previously been described in sporadic ANE. Both the patient and her mother, who had also had postviral polyneuritis in the past, harbour a mutation in Ran-binding protein 2 (RANBP2); this occurred de novo in the mother and confers genetic susceptibility to ANE. Our case suggests that recurrent disease and/or an expanded clinical phenotype raises the possibility of ANE1; positive family history, although supportive, is not necessary as the mutation can occur de novo. Increased awareness may lead to earlier recognition and better treatment options.

The role of reverse mentoring in medical education: current insights.

Reverse mentoring is a relatively contemporary concept that relies on the reversal of the traditional roles of mentor and mentee and the abolition of the mentorship model as an apprenticeship or hierarchy. Typically, a younger specialist takes on the role of mentor and an older, more experienced specialist the role of mentee. Reverse mentoring is founded in learning and social theories of mentorship and has been practically applied in information technology, business and education fields. However, there is a role for reverse mentoring in medical education and the health sciences, particularly with the inclusion of new technologies in a changing health landscape, and the emphasis on interdisciplinary teamwork and improved workplace culture. Further investigation and analysis of reverse mentoring is warranted, with a particular focus on the implementation of the reverse mentor model in the field of medical education and the health sciences. To assist those considering implementation of mentorship programs in their workplace, this article provides an overview of recent literature, with suggested applications of "reverse mentoring" in the medical education context.

Opioid-induced hypoadrenalism resulting in fasting hypoglycaemia.

An 18-year-old woman with a history of hollow visceral myopathy presented with a small-bowel obstruction. High-dose opioid analgesia was required subsequently during hospital admission. She suffered two episodes of documented fasting hypoglycaemia, despite adjustment of parenteral carbohydrate administration. Investigations for non-insulin-mediated hypoglycaemia revealed a low morning cortisol of 109 nmol/L and an inappropriately low Adrenocorticotropic hormone (ACTH) level of 2.2 pmol/L. A diagnosis of secondary adrenal insufficiency was confirmed on repeat cortisol and ACTH testing. The 250 µg short Synacthen test cortisol response was normal, suggestive of acute rather than chronic ACTH deficiency. This pattern was consistent after further opioid exposure. Adrenal recovery occurred shortly after opioid cessation. Opioid-induced hypoadrenalism is likely an under-recognised clinical entity with potentially serious adverse patient outcomes. There are reported cases involving commonly prescribed opioids including fentanyl and tramadol. However, we believe this is the first reported clinical case of acute transient opioid-induced secondary hypoadrenalism associated with fasting hypoglycaemia.

GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging.

Glucose transporter type 1 (GLUT1) deficiency syndrome is a well recognised genetic neurometabolic disorder typically presenting with progressive encephalopathy, acquired microcephaly and drug-resistant epilepsy. Imaging is normal in the majority. Here we describe a 5-month-old boy who presented with motor delay, myoclonic jerks and tonic-clonic seizures. His MRI brain scan revealed confluent symmetrical T2 hyperintense signal abnormality in both anterior frontal lobes and delayed myelination. Neurometabolic screen revealed low CSF glucose and lactate levels. A pathogenic de novo heterozygous mutation in SLC2A1 (c.275+1G > A) confirmed the diagnosis of GLUT1 deficiency. Ketogenic diet resulted in a dramatic termination of his seizures at 72 h. At 15 months, he continued to be seizure free with marked developmental catch up. Repeat imaging revealed a significant resolution of the previously seen changes. This case suggests that GLUT1 deficiency should be considered in the differential diagnosis of infants with suspected genetic leukoencephalopathies with important treatment implications.

Peer-assisted learning in medical school: tutees' perspective.

PURPOSE: Peer tutoring offers a valuable method of enhancing students' learning experience in medical school. Junior students learn from senior peers to reinforce curriculum content in an engaging community environment. The aim of our study was to assess tutees' perceptions of a formal peer tutoring program at the Central Clinical School of Sydney Medical School. We used the learning theory of the community of practice in order to understand tutees' perspectives. PATIENTS AND METHODS: All Year 1 and Year 2 students within the Central Clinical School were invited to be tutored by Year 3 and Year 4 students, respectively. Tutor pairs taught a group of three to four tutees fortnightly, and the tutorials were largely clinically based. A questionnaire containing 13 closed items and four open-ended questions regarding their experiences in the program was distributed to the tutees. Descriptive statistics were used to analyze the data. RESULTS: A total of 66 of 101 (65%) Year 1 and Year 2 students took part as tutees and 42 of 106 (40%) students as tutors. The tutees' response rate was 53% (35/66). Results were largely positive, with 97% of the tutees enjoying the program, 90% showing interest in tutorial topics, 91% feeling a sense of community, 100% wanting to take part next year, 97% finding small groups effective, and 97% and 91% feeling an improved understanding of medical concepts and clinical skills, respectively. Tutees perceived the most useful aspects to be learning and revision and advice from experienced peers. The most frequent suggestion for improvement was to resolve scheduling conflicts. CONCLUSION: Tutees found the peer tutoring program to be valuable in learning and revision, establishing a community, and gaining practical skills and advice through a small-group format. The community of practice framework was useful in identifying these areas of benefit, demonstrating that a peer tutoring program such as this can provide an enhanced learning environment for tutees.

Acute flaccid weakness with myelopathy and peripheral nerve involvement in 2 children: Recent characterization of a previously observed phenomenon.

BACKGROUND: Acute flaccid weakness may be the first presentation of acute transverse myelitis (ATM), an immune-mediated central nervous system disorder or may be the first presentation of anterior horn cell syndrome or peripheral nervous system disease. CASE REPORTS: We describe two previously healthy female infants who presented with acute flaccid paralysis and encephalopathy. Neuroimaging revealed central cord signal changes in both cases and surprisingly electrophysiological studies performed revealed a generalized axonal motor neuropathy as well. CONCLUSION: Clinical, radiological and neurophysiological assessment are important to aid in the diagnosis and subsequent management of children with overlapping inflammatory peripheral and central nervous system syndromes.

Progressive myoclonic epilepsy with Fanconi syndrome.

This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex phenotypes.