Clinical Significance of Delirium With Catatonic Signs in Patients With Neurological Disorders.

OBJECTIVE: According to DSM-5, catatonia and delirium are mutually exclusive clinical syndromes. The investigators explored the co-occurrence of delirium and catatonia (i.e., catatonic delirium) and the clinical significance of this syndrome with a sample of neurological patients. METHODS: This prospective study with consecutive sampling included patients diagnosed with delirium at the National Institute of Neurology and Neurosurgery of Mexico. DSM-5 criteria for delirium, the Confusion Assessment Method, and the Delirium Rating Scale-Revised-98 were used to select and characterize patients. Catatonia was assessed using the Bush-Francis Catatonia Rating Scale and DSM-5 diagnostic criteria. Logistic regression analysis was performed to identify etiological factors associated with catatonic delirium. RESULTS: A total of 264 patients with delirium were included, 61 (23%) of whom fulfilled the criteria for catatonia and delirium simultaneously. Brain tumors, subarachnoid hemorrhage, acute hydrocephalus, and ischemic stroke were associated with delirium without catatonic signs. Catatonic delirium was observed among patients with encephalitis, epilepsy, brain neoplasms, and brain tuberculosis. After multivariate analysis, the association between catatonic delirium and encephalitis (both viral and anti-N-methyl-d-aspartate receptor [NMDAR]) was confirmed. CONCLUSIONS: Delirium is a common complication of neurological diseases, and it can coexist with catatonia. The recognition of catatonic delirium has clinical significance in terms of etiology, as it was significantly associated with viral and anti-NMDAR encephalitis.

Acute Limb Ischemia in a Peruvian Cohort Infected by COVID-19.

BACKGROUND: Coronavirus disease 2019 (COVID-19) infection can cause alterations in the coagulation mechanism conditioning thrombotic phenomena such as acute limb ischemia (ALI) as the only manifestation of the infection. The aim of the study was to describe clinical and surgical characteristics of a group of patients infected with severe acute respiratory syndrome coronavirus 2 who presented ALI in the context of the COVID-19 pandemic at Lima, Peru. METHODS: A multicenter, observational, and retrospective study was performed in six general hospitals, from March to July 2020. The variables considered were the pathological history and associated habits, laboratory tests, the severity of COVID-19 infection and ALI, the anatomic location of the lesion, treatment, evolution, and discharge conditions. RESULTS: Thirty patients with ALI infected with COVID-19 were evaluated. Their mean age was 60 ± 15 years, the condition being more frequent in men (76.6%). The main comorbidities were arterial hypertension (33.3%), obesity (33.3%), and diabetes mellitus 2 (26.6%). There were 23.3% asymptomatic patients, and their only manifestation was ALI. Rutherford IIA and IIB stage included 93.2% of patients. The most frequent location of the thrombosis was the lower limbs (73.3% vs. 26.6%). Thrombectomy was performed in 76.6% of the patients, and amputation (primary and secondary) was performed in 30% of the patients. The mortality rate was 23.3%, all of it because of acute respiratory distress syndrome. CONCLUSIONS: ALI is a vascular pathology associated with embolic and thrombotic processes. COVID-19 infection can cause severe alterations in coagulation mechanisms, leading some patients to present severe acute arterial complications such as thrombosis, as the only associated manifestation. We report a younger cohort than those described in other studies and with a high frequency of amputations despite adequate surgical treatment.

Negative pressure wound therapy in preseptal orbital cellulitis complicated with necrotizing fasciitis and preseptal abscess.

PURPOSE: Preseptal cellulitis (PC) may be locally complicated with abscess formation and necrotizing fasciitis. If not treated promptly and adequately, it may result in further complications. The authors report a series of patients where negative pressure wound therapy (NPWT) proved a safe and valuable adjunct therapy in avoiding complications of PC and in accelerating wound healing. METHODS: A 4 patient case series. Four male patients (11 months to 58 years old) with unilateral complicated PC. INTERVENTIONS: Patients were admitted with PC and treated initially with specific intravenous antibiotic therapy. These patients did not respond adequately; therefore, surgical drainage and/or debridement were performed. After surgery, persistent edema and purulent discharge was observed prompting the need for adjunct NPWT every 48 to 72 hours. NPWT is the use of vacuum through a wound filler material covered with an airtight drape connected to a pump. Complete ophthalmologic examination was performed after each 48-hour cycle. Length of hospital stay, days from surgery to discharge, days from start of NPWT to discharge, clinical improvement, and safety. RESULTS: Four patients were diagnosed with PC between 2 and 5 days of evolution. Two diabetic adults developed the condition secondary to trauma, the adolescent as a result of a cosmetic piercing, and the infant associated to sinusitis. NPWT reached -125 mm·Hg, except for the infant who received -75 mm·Hg. The average number of days necessary for improvement with NPWT was 6.7 days. Only 2 patients required surgical reconstruction. Time from debridement to discharge was in average 13.5 days. No ocular complications were observed, and follow up was satisfactory with normal eyelid function and aesthetics and preserved visual acuity. CONCLUSIONS: NPWT proved to be safe and effective for treating locally complicated PC as an adjuvant therapy to antibiotic and surgical treatment that decreased the length of hospital stay, and the time for recovery in patients that were slow responders. No ocular complications were observed in any of these patients' follow up ranging from 1 to 4 years.

Socioeconomic disparities in diet and physical activity in children: evidence from well-child visit electronic health records in the Canary Islands, Spain.

BACKGROUND: Diet and physical activity (PA) in childhood are heavily influenced by the living environment. While diet quality follows a socioeconomic pattern, limited evidence is available in relation to PA in children. We assessed the effect of socioeconomic status at the individual (SES) and neighbourhood (NSES) levels on diet and PA among children from the general population of the Canary Islands, Spain. METHODS: In this cross-sectional study, patients aged 6-14 years from the Canary Health Service in 2018 were included (n=89 953). Diet and PA surveys from the electronic health records of the well-child visit programme were used. A healthy habits (HH) score was defined to assess the level of adherence to the dietary and leisure time PA guidelines. We modelled the association between the HH score, SES and NSES using a stepwise multilevel linear regression analysis, differentiating between specific and general contextual observational effects. RESULTS: A strong positive association between SES and the HH score was found, as children living in more affluent families were more likely to follow a healthy diet and being physically active. Differences in the HH score between geographical areas were of minor relevance (variance partition coefficient=1.8%) and the general contextual effects were not substantially mediated by NSES (proportional change in variance=3.5%). However, the HH score was significantly lower in children from areas with a higher percentage of annual incomes below the €18 000 threshold. CONCLUSION: HH followed a socioeconomic gradient at the individual and the neighbourhood level. In the study population, the geographical component of the inequalities found were low.

COVID-19 IgG seropositivity and its determinants in occupational groups of varying infection risks in two Andean cities of Ecuador before mass vaccination.

BACKGROUND: The COVID-19 pandemic has caused over 68.7 million infections and 1.35 million deaths in South America. There are limited data on SARS-CoV-2 seropositivity and its determinants from Andean countries prior to mass vaccinations against COVID-19. OBJECTIVE: To estimate SARS-CoV-2 seropositivity and its determinants before vaccination in occupational groups of adults presumed to have different levels of exposure and associations with potential symptomatology. METHODS: We measured seropositivity of anti-SARS-CoV-2 IgG antibodies in a cross-sectional study of vaccine-naïve adults aged 18 years and older, recruited within three occupational risk groups (defined as low [LR], moderate [MR], and high [HR]) between January and September 2021 in two Andean cities in Ecuador. Associations with risk factors were estimated using logistic regression. RESULTS: In a sample of 882 adults, IgG seropositivity for the three different occupational risk groups was 39.9% (CI 95% 35.3-44.6), 74.6% (CI 95% 66.4-81.4), and 39.0% (CI 95% 34.0-44.4) for the HR, MR, and LR groups, respectively. History of an illness with loss of taste and/or smell was significantly associated with seropositivity in all occupational groups, with adjusted ORs of 14.31 (95%CI, 5.83-35.12; p<0.001), 14.34 (95%CI 3.01-68.42; p<0.001), and 8.79 (95%CI 2.69-28.72; p<0.001), for the HR, MR, and LR groups, respectively; while fever was significant for the LR group with an adjusted OR of 1.24 (95%CI, 1.11-4.57; p = 0.025) and myalgia for the HR group with an adjusted OR of 2.07 (95%CI, 1.13-3.81; p = 0.019). CONCLUSION: Notable proportions of seropositivity were seen in all occupational groups between January and September 2021 prior to mass vaccination. Loss of taste and/or smell was strongly associated with presence of anti-SARS-CoV-2 IgG antibodies irrespective of presumed occupational exposure risk.

'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.

Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. It is caused by a GGCCTG repeat expansion in intron 1 of NOP56. Family interview and document research allowed us to reconstruct two extensive, multigenerational kindreds stemming from the same village (Costa da Morte in Galicia, Spain), in the 17th century. We found the presence of the spinocerebellar ataxia 36 mutation co-segregating with disease in these families in whom we had previously identified an ~0.8 Mb linkage region to chromosome 20 p. Subsequent screening revealed the NOP56 expansion in eight additional Galician ataxia kindreds. While normal alleles contain 5-14 hexanucleotide repeats, expanded alleles range from ~650 to 2500 repeats, within a shared haplotype. Further expansion of repeat size was frequent, especially upon paternal transmission, while instances of allele contraction were observed in maternal transmissions. We found a total of 63 individuals carrying the mutation, 44 of whom were confirmed to be clinically affected; over 400 people are at risk. We describe here the detailed clinical picture, consisting of a late-onset, slowly progressive cerebellar syndrome with variable eye movement abnormalities and sensorineural hearing loss. There were signs of denervation in the tongue, as well as mild pyramidal signs, but otherwise no signs of classical amyotrophic lateral sclerosis. Magnetic resonance imaging findings were consistent with the clinical course, showing atrophy of the cerebellar vermis in initial stages, later evolving to a pattern of olivo-ponto-cerebellar atrophy. We estimated the origin of the founder mutation in Galicia to have occurred ~1275 years ago. Out of 160 Galician families with spinocerebellar ataxia, 10 (6.3%) were found to have spinocerebellar ataxia 36, while 15 (9.4%) showed other of the routinely tested dominant spinocerebellar ataxia types. Spinocerebellar ataxia 36 is thus, so far, the most frequent dominant spinocerebellar ataxia in this region, which may have implications for American countries associated with traditional Spanish emigration.

Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant.

X-linked myopathy with excessive autophagy is a rare inherited disease characterized by aberrant accumulation of autophagic vacuoles in skeletal muscle. Affected males usually show a slow progression and the heart is characteristically spared. We present four male patients from the same family with an extremely aggressive form of this disease, requiring permanent mechanical ventilation from birth. Ambulation was never achieved. Three died, one in the first hour of life, one at 7 years and one at 17 years, the last death being a consequence of heart failure. Muscle biopsy showed pathognomonic features of the disease in the 4 affected males. Genetic study found a novel synonymous variant in VMA21, c.294C>T (Gly98=). Genotyping was consistent with co-segregation with the phenotype in an X-linked recessive manner. An alteration of the normal splice pattern was confirmed by transcriptome analysis, proving that the apparently synonymous variant was the cause of this extremely severe phenotype.

An updated examination of the perception of barriers for pharmacogenomics implementation and the usefulness of drug/gene pairs in Latin America and the Caribbean.

Pharmacogenomics (PGx) is considered an emergent field in developing countries. Research on PGx in the Latin American and the Caribbean (LAC) region remains scarce, with limited information in some populations. Thus, extrapolations are complicated, especially in mixed populations. In this paper, we reviewed and analyzed pharmacogenomic knowledge among the LAC scientific and clinical community and examined barriers to clinical application. We performed a search for publications and clinical trials in the field worldwide and evaluated the contribution of LAC. Next, we conducted a regional structured survey that evaluated a list of 14 potential barriers to the clinical implementation of biomarkers based on their importance. In addition, a paired list of 54 genes/drugs was analyzed to determine an association between biomarkers and response to genomic medicine. This survey was compared to a previous survey performed in 2014 to assess progress in the region. The search results indicated that Latin American and Caribbean countries have contributed 3.44% of the total publications and 2.45% of the PGx-related clinical trials worldwide thus far. A total of 106 professionals from 17 countries answered the survey. Six major groups of barriers were identified. Despite the region's continuous efforts in the last decade, the primary barrier to PGx implementation in LAC remains the same, the "need for guidelines, processes, and protocols for the clinical application of pharmacogenetics/pharmacogenomics". Cost-effectiveness issues are considered critical factors in the region. Items related to the reluctance of clinicians are currently less relevant. Based on the survey results, the highest ranked (96%-99%) gene/drug pairs perceived as important were CYP2D6/tamoxifen, CYP3A5/tacrolimus, CYP2D6/opioids, DPYD/fluoropyrimidines, TMPT/thiopurines, CYP2D6/tricyclic antidepressants, CYP2C19/tricyclic antidepressants, NUDT15/thiopurines, CYP2B6/efavirenz, and CYP2C19/clopidogrel. In conclusion, although the global contribution of LAC countries remains low in the PGx field, a relevant improvement has been observed in the region. The perception of the usefulness of PGx tests in biomedical community has drastically changed, raising awareness among physicians, which suggests a promising future in the clinical applications of PGx in LAC.

Axonal neuropathy, long limbs and bumpy tongue: think of MEN2B.

INTRODUCTION: Multiple endocrine neoplasia type 2 (MEN 2) is an uncommon autosomal dominant cancer syndrome which can be associated with nerve conduction abnormalities. METHODS: A 14-year-old boy with a family history of consanguinity developed progressive gait clumsiness, pes cavus, hypotonia, and mucosal tumors of the lips and tongue since the age of 3 years. At age 11 years, he was diagnosed with an hereditary motor neuropathy (Charcot-Marie-Tooth syndrome). RESULTS: Physical examination revealed a Marfanoid habitus, mucocutaneous verrucous tumors, thyroid nodules, and cervical adenopathy. Genetic testing demonstrated the p.M918T mutation in the RET gene, and blood tests showed elevated levels of calcitonin. CONCLUSIONS: Clinical suspicion in MEN2 is crucial for early diagnosis and subsequent therapy. Mucosal neuroma and a Marfanoid habitus are especially useful. Other neurologic manifestations should not disguise the endocrine disorder, because early diagnosis and treatment of medullary thyroid carcinoma determines the prognosis.

An event driven hybrid identity management approach to privacy enhanced e-health.

Credential-based authorization offers interesting advantages for ubiquitous scenarios involving limited devices such as sensors and personal mobile equipment: the verification can be done locally; it offers a more reduced computational cost than its competitors for issuing, storing, and verification; and it naturally supports rights delegation. The main drawback is the revocation of rights. Revocation requires handling potentially large revocation lists, or using protocols to check the revocation status, bringing extra communication costs not acceptable for sensors and other limited devices. Moreover, the effective revocation consent--considered as a privacy rule in sensitive scenarios--has not been fully addressed. This paper proposes an event-based mechanism empowering a new concept, the sleepyhead credentials, which allows to substitute time constraints and explicit revocation by activating and deactivating authorization rights according to events. Our approach is to integrate this concept in IdM systems in a hybrid model supporting delegation, which can be an interesting alternative for scenarios where revocation of consent and user privacy are critical. The delegation includes a SAML compliant protocol, which we have validated through a proof-of-concept implementation. This article also explains the mathematical model describing the event-based model and offers estimations of the overhead introduced by the system. The paper focus on health care scenarios, where we show the flexibility of the proposed event-based user consent revocation mechanism.

Genome-wide survey of yeast mutations leading to activation of the yeast cell integrity MAPK pathway: novel insights into diverse MAPK outcomes.

BACKGROUND: The yeast cell wall integrity mitogen-activated protein kinase (CWI-MAPK) pathway is the main regulator of adaptation responses to cell wall stress in yeast. Here, we adopt a genomic approach to shed light on two aspects that are only partially understood, namely, the characterization of the gene functional catalog associated with CWI pathway activation and the extent to which MAPK activation correlates with transcriptional outcomes. RESULTS: A systematic yeast mutant deletion library was screened for constitutive transcriptional activation of the CWI-related reporter gene MLP1. Monitoring phospho-Slt2/Mpk1 levels in the identified mutants revealed sixty-four deletants with high levels of phosphorylation of this MAPK, including mainly genes related to cell wall construction and morphogenesis, signaling, and those with unknown function. Phenotypic analysis of the last group of mutants suggests their involvement in cell wall homeostasis. A good correlation between levels of Slt2 phosphorylation and the magnitude of the transcriptional response was found in most cases. However, the expression of CWI pathway-related genes was enhanced in some mutants in the absence of significant Slt2 phosphorylation, despite the fact that functional MAPK signaling through the pathway was required. CWI pathway activation was associated to increased deposition of chitin in the cell wall - a known survival compensatory mechanism - in about 30% of the mutants identified. CONCLUSION: We provide new insights into yeast genes related to the CWI pathway and into how the state of activation of the Slt2 MAPK leads to different outcomes, discovering the versatility of this kind of signaling pathways. These findings potentially have broad implications for understanding the functioning of other eukaryotic MAPKs.

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.

The Na(+)/K(+)-ATPases are ion pumps of fundamental importance in maintaining the electrochemical gradient essential for neuronal survival and function. Mutations in ATP1A3 encoding the alpha3 isoform cause rapid-onset dystonia-parkinsonism (RDP). We report a de novo ATP1A3 mutation in a patient with typical RDP, consisting of an in-frame insertion of a tyrosine residue at the very C terminus of the Na(+)/K(+)-ATPase alpha3-subunit-the first reported RDP mutation in the C terminus of the protein. Expression studies revealed that there is no defect in the biogenesis or plasma membrane targeting, although cells expressing the mutant protein showed decreased survival in response to ouabain challenge. Functional analysis demonstrated a drastic reduction in Na(+) affinity in the mutant, which can be understood by structural modelling of the E1 and E2 conformations of the wild-type and mutant enzymes on the basis of the strategic location of the C terminus in relation to the third Na(+) binding site. The dramatic clinical presentation, together with the biochemical findings, provides both in vivo and in vitro evidence for a crucial role of the C terminus of the alpha-subunit in the function of the Na(+)/K(+)-ATPase and a key impact of Na(+) affinity in the pathophysiology of RDP.

Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.

Schuurs-Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caused by pathogenic variants in the PACS1 gene. PACS1 is a trans-Golgi-membrane traffic regulator that directs protein cargo and several viral envelope proteins. It is upregulated during human embryonic brain development and has low expression after birth. So far, only 54 patients with SHMS have been reported. In this work, we report on seven new identified SHMS individuals with the classical c.607C > T: p.Arg206Trp PACS1 pathogenic variant and review clinical and molecular aspects of all the patients reported in the literature, providing a summary of clinical findings grouped as very frequent (≥75% of patients), frequent (50-74%), infrequent (26-49%) and rare (less than ≤25%).

Effect of ventilation rate on recovery after cardiac arrest in a pediatric animal model.

AIMS: To assess the impact of two different respiratory rates in hemodynamic, perfusion and ventilation parameters in a pediatric animal model of cardiac arrest (CA). METHODS: An experimental randomized controlled trial was carried out in 50 piglets under asphyxial CA. After ROSC, they were randomized into two groups: 20 and 30 respirations per minute (rpm). Hemodynamic, perfusion and ventilation parameters were measured 10 minutes after asphyxia, just before ROSC and at 5, 15, 30 and 60 minutes after ROSC. Independent medians test, Kruskal-Wallis test and χ2 test, were used to compare continuous and categorical variables, respectively. Spearman's Rho was used to assess correlation between continuous variables. A p-value <0.05 was considered significant. RESULTS: Arterial partial pressure of carbon dioxide (PaCO2) was significantly lower in the 30 rpm group after 15 minutes (41 vs. 54.5 mmHg, p <0.01), 30 minutes (39.5 vs. 51 mmHg, p < 0.01) and 60 minutes (36.5 vs. 48 mmHg, p = 0.02) of ROSC. The percentage of normoventilated subjects (PaCO2 30-50 mmHg) was significantly higher in the 30 rpm group throughout the experiment. pH normalization occurred faster in the 30 rpm group with significant differences at 60 minutes (7.40 vs. 7.34, p = 0.02). Lactic acid levels were high immediately after ROSC in both groups, but were significantly lower in the 20 rpm group at 30 (3.7 vs. 4.7 p = 0.04) and 60 minutes (2.6 vs. 3.6 p = 0.03). CONCLUSIONS: This animal model of asphyxial CA shows that a respiratory rate of 30 rpm is more effective to reach normoventilation than 20 rpm in piglets after ROSC. This ventilation strategy seems to be safe, as it does not cause hyperventilation and does not affect hemodynamics or cerebral tissue perfusion.

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.

There are few reports on axonal CMT due to dominant GDAP1 mutations. We describe two unrelated Spanish families with a dominant axonal CMT. A novel in frame GAA deletion in exon 5 of the GDAP1 gene (c.677_679del; p.R226del) was identified in both families. Disease onset varied from early childhood to adulthood. Affected family members complained of distal lower limb weakness, cramps and foot deformities with variable CMTNS score in both families. Several individuals were asymptomatic or had paraesthesia only, however neurological examination and nerve conduction studies demonstrated neuropathic signs. Transfection of HeLa cells with the p.R226del mutation led to an increased mitochondrial aggregation. We report an AD-CMT2K with large phenotypic variability due to a novel dominant GDAP1 variant. This is the second founder GDAP1 pathogenic variant reported in Spain.

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicenter study analyzed the clinical and genetic characteristics of patients with GDAP1 mutations across Spain. 99 patients were identified, which were distributed across most of Spain, but especially in the Northwest and Mediterranean regions. The most common genotypes were p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of autosomal recessive patients). Patients with recessively inherited mutations had a more severe phenotype, and certain clinical features, like dysphonia or respiratory dysfunction, were exclusively detected in this group. Dominantly inherited mutations had prominent clinical variability regarding severity, including 29% of patients who were asymptomatic. There were minor clinical differences between patients harboring specific mutations but not when grouped according to localization or type of mutation. This is the largest clinical series to date of patients with GDAP1 mutations, and it contributes to define the genetic distribution and genotype-phenotype correlation in this rare form of CMT.

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

Desminopathies represent a subtype of myofibrillar myopathy caused by mutations in the DES gene, which cause myofibril disruption and intracellular inclusions containing desmin and other protein components. Desminopathy mainly involves skeletal and cardiac muscle, separately or together. Both autosomal dominant and autosomal recessive inheritance have been reported. Here, we describe the second family identified to date with an L370P desmin mutation. The disease in this family shows autosomal dominant inheritance with a particular phenotype, where males suffer from sudden death of cardiac origin while females exhibit a more benign myopathy of distal onset and slower progression. Because the only family previously identified with this mutation was limited to one studied patient, the present kindred represents the largest clinical investigation of the phenotype associated with the L370P mutation.

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

Next generation sequencing (NGS) is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization. However, such an approach bears a high risk of incidental and uncertain genetic findings. We report a patient with spastic paraplegia whose comprehensive neurological and imaging examination raised a high clinical suspicion of SPG11. Thus, although our NGS pipeline for this group of disorders includes gene panel and exome sequencing, in this sample only the spatacsin gene region was captured and subsequently searched for mutations. Two probably pathogenic variants were quickly and clearly identified, confirming the diagnosis of SPG11. This case illustrates how combination of expert clinical characterization with highly oriented NGS protocols leads to a fast, cost-efficient diagnosis, minimizing the risk of findings with unclear significance.

Lupus neonatal. Reporte de un caso

El lupus eritematoso neonatal (LEN) es una enfermedad rara, con incidencia de aproximadamente 2% en recién nacidos y menos del 5% de estos bebés desarrollarán lupus eritematoso sistémico en la adolescencia tardía o en la adultez temprana. Se presenta un caso de un recién nacido de término, hijo de madre sin antecedentes previos, sexo femenino, con marcadores inmunológicos positivos; nace con 3.280 gramos de peso, 40 semanas de edad gestacional, con lesiones en piel en el que el diagnóstico diferencial fue infección herpética, llegando al diagnóstico y logrando descartar de forma oportuna afectación sistémica, la que podría llegar a poner en riesgo la vida del neonato, con esta presentación de caso se concluye la importancia de agregar entre los diagnósticos diferenciales, el lupus eritematoso neonatal, entre los pacientes con lesión en piel incluso desde su nacimiento.

Neonatal lupus erythematosus (NLE) is a rare disease, with an incidence of approximately 2% in newborns. Less than 5% of these babies will develop systemic lupus erythematosus in late adolescence or early adulthood. A case of a female term newborn is presented, born to a mother with an unremarkable previous history, with positive immunological markers; birth weight of 3,280 grams, 40 weeks gestational age, with skin lesions in which the differential diagnosis was herpetic infection. The diagnosis was made and systemic involvement was ruled out in a timely manner, which could have potentially endangered the life of the newborn. This case demonstrates the importance of adding neonatal lupus erythematosus to the differential diagnosis in patients with skin lesions at birth.