Limited Neck Rotation Research Articles

Ludwig's Angina, Clinical Challenge in Pediatrics. – A Case Report

BACKGROUND: Ludwig's angina is a rapidly progressing cellulitis that occurs in the sublingual, submandibular, and submental spaces, with a high mortality rate due to its potential to obstruct the airway. Its primary cause is odontogenic, with polymicrobial infection being the most common scenario. The occurrence of this condition is less common in the pediatric population, but children are more susceptible to life-threatening complications. THE CASE: A two-year-old male preschooler, with no significant medical history, presented with a clinical picture evolving over six days. This was characterized by recurrent fever spikes (up to a maximum of 38.7 degrees Celsius) and a growing, stony, painful mass in the right cervical region measuring 5cm x 5cm. The patient had not shown improvement despite self-medication with amoxicillin at home. Upon admission to a regional hospital, a fixed, painful, stony mass was found in the right submandibular region. Blood tests revealed leukocytosis with a left shift, positive acute-phase reactants, and a neck ultrasound indicating upper cervical adenitis without abscess formation. Antibiotic treatment was initiated for six days. However, the fever persisted, and there was an increase in the size of the lesion, along with the formation of an abscess and limited neck rotation. Consequently, on the 12th day of illness, the patient was referred to a tertiary-level hospital where a large, fixed, stony lesion was observed in neck regions II and III, with no exclusion of a neoplastic process. The patient also experienced difficulty swallowing, necessitating a liquid diet. It was decided to perform drainage under sedation and a biopsy, which revealed a stony mass in the right neck region II extending into the submental space and midline. There were severe inflammatory changes in the subcutaneous tissue, necrotic lymph nodes, but no abscess was found. Pathological examination showed inflammatory infiltrate, recent hemorrhage and vascular congestion, with the initial suspicion being an infectious process. Flow cytometry of the cervical lymph node showed no alterations in the lymphoid series but an elevation of neutrophils. However, due to the characteristics and location of the lesion, a consultation with pediatric hematologic-oncology was sought, and they considered a low likelihood of malignancy. A tuberculin test was requested and returned negative results. A culture of the lesion also yielded negative results. During hospitalization, the condition was considered Ludwig's angina, and the patient continued to show a progressive reduction in temperature and adenitis. On the 21st day, the patient exhibited a reduction of approximately 90% in the size of the lesion, leading to the discontinuation of antibiotic treatment and subsequent medical discharge. CONCLUSION: Ludwig's angina is an infection that primarily affects the floor of the mouth, progressing rapidly and potentially compromising the patient's airways, thus warranting a medical emergency status. It is uncommon and can be mistaken for neoplastic diseases or other infections, highlighting the need for knowledge about this condition and a high degree of suspicion due to its potentially life-threatening consequences. The goal is to establish appropriate management through a multidisciplinary team, given the complexity of its manifestations.

Coexistence of Neck and Shoulder Disability: Results of a Population-Based Cross-Sectional Study on Normative Scores and Multifactorial Risk Factors for Neck and Shoulder Problems.

Study DesignCross-sectional population-based study.PurposeThe study objective was to evaluate the coexistence of neck- and shoulder-disability, to establish normative scores for Neck Disability Index (NDI), Visual Analog Scale (VAS)-neck, VAS-arm, Quick Disability of Shoulder and Hand (Quick-DASH), and modified Constant score (mConstant score), and to determine the influence of psychological distress (Hospital Anxiety and Depression Scale [HADS]) on the disability measures. The authors also investigated the distribution of dysphagia across the population and its relation to the NDI scores.Overview of LiteratureSeveral factors can adversely influence the clinical outcomes after cervical surgeries. The interaction of neck and shoulder disability in the perspective of psychological distress is not well understood.MethodsProspective questionnaire-based assessment was performed for 1,000 participants. Questionnaires consisted of validated generic and disease-specific queries and specific questions. The survey included patients without pathologies of cervical spine/shoulders/upper extremities.ResultsMean age of participants was 39 years. The average neck VAS score was 1.2, NDI% was 7.3, arm VAS score was 0.8, Quick-DASH was 6.2, mConstant score was 70.7, HADS-A score was 4.9, and HADS-D score was 3.2. The psychological scores showed a significant correlation with neck- and shoulder-disability (p<0.0001, r=0.3 to r=0.5). However, correlations between neck (NDI%, neck VAS score) and shoulder disability (mConstant score, arm VAS score, Quick-DASH) were stronger (p<0.0001, r=0.5 to r=0.6). A body mass index >35 kg/m2 influenced shoulder-disability (p<0.005) and psychological distress (HADS-D score, p<0.00001). Limited neck rotation was present in those with higher age, psychological distress, neck and shoulder disability (p<0.001).ConclusionsNormative scores for neck and shoulder disability were established. The outcomes of cervical spine surgery can be normalized to these results. A better understanding of the interdependencies of neck and shoulder disability and psychological distress would enable superior decision-making and patient counseling.

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss

BackgroundCongenital combined pituitary hormone deficiency (CPHD) is a rare heterogeneous group of conditions. CPHD-type 3 (CPHD3; MIM# 221750) is caused by recessive mutations in LHX3, a LIM-homeodomain transcription factor gene. The isoforms of LHX3 are critical for pituitary gland formation and specification of the anterior pituitary hormone-secreting cell types. They also play distinct roles in the development of neuroendocrine and auditory systems.Case presentationHere, we summarize the clinical, endocrinological, radiological and molecular features of three patients from two unrelated families. Clinical evaluation revealed severe CPHD coupled with cervical vertebral malformations (rigid neck, scoliosis), mild developmental delay and moderate sensorineural hearing loss (SNHL). The patients were diagnosed with CPHD3 based on the array of hormone deficiencies and other associated syndromic symptoms, suggestive of targeted LHX3 gene sequencing. A novel missense mutation c.437G > T (p. Cys146Phe) and a novel nonsense mutation c.466C > T (p. Arg156Ter), both in homozygous forms, were found. The altered Cys146 resides in the LIM2 domain of the encoded protein and is a phylogenetically conserved residue, which mediates LHX3 transcription factor binding with a zinc cation. The p. Arg156Ter is predicted to result in a severely truncated protein, lacking the DNA binding homeodomain.ConclusionsConsidering genotype/phenotype correlation, we suggest that the presence of SNHL and limited neck rotation should be considered in the differential diagnosis of CPHD3 to facilitate molecular diagnosis. This report describes the first LHX3 mutations from Saudi patients and highlights the importance of combining molecular diagnosis with the clinical findings. In addition, it also expands the knowledge of LHX3-related CPHD3 phenotype and the allelic spectrum for this gene.

Deformational plagiocephaly in normal infants: a systematic review of causes and hypotheses

BackgroundDeformational plagiocephaly (DP) is one of the most prevalent abnormal findings in infants and a frequent reason for parents to seek paediatric advice.ObjectiveTo systematically review the literature and identify evidence...

Acute neck pain caused by arthritis of the lateral atlantoaxial joint

Background contextMany diseases can cause acute neck pain in elderly individuals. We conducted the present prospective study based on the hypothesis that arthritis of the lateral atlantoaxial joint may be involved in acute neck pain in elderly patients with limited neck rotation. PurposeTo clarify whether the lateral atlantoaxial joint is involved in acute neck pain among elderly individuals by conducting lateral atlantoaxial joint puncture. Study designA prospective study. Patient sampleTwenty-seven patients (13 men, 14 women) aged 50 years or more who provided consent for atlantoaxial joint puncture met the following four inclusion criteria: acute neck pain with limited cervical rotation of less than 20° as the chief complaint; visual analog scale pain score of 70 mm or more at initial visit; tenderness in the paraspinal muscle of upper cervical vertebrae; and serum C-reactive protein level of 0.5 mg/dl or more. Outcome measuresVisual analog scale pain score and radiologic findings. MethodsPatients underwent puncture of the lateral atlantoaxial joint and were evaluated clinically and radiologically. ResultsComputed tomography obtained before puncture showed calcification of the transverse ligament of the atlas in the posterior dens in 22 patients (81.5%), calcification in the longus colli in 2 patients (7.4%), and no calcification in 3 patients (11.1%). Of 27 patients who underwent lateral atlantoaxial joint puncture, joint fluid was collected from 16 patients (59.3%) and calcium pyrophosphate dihydrate crystals were identified in 10 patients (62.5%). For the entire patient population, mean VAS score before puncture was 81.9±16.3 mm, significantly improving to 35.6±24.4 mm by 30 minutes after puncture (p<.001). ConclusionsThe results of this study suggest that crystal-induced arthritis (pseudogout) of the lateral atlantoaxial joint may be closely involved with acute neck pain in the elderly.

A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency

Background/Aims:Recessive mutations in the LHX3 ho-meodomain transcription factor gene are associated with developmental disorders affecting the pituitary and nervous system. We describe pediatric patients with combined pituitary hormone deficiency (CPHD) who harbor a novel mutation in LHX3. Methods:Two female siblings from related parents were examined. Both patients had neonatal complications. The index patient had CPHD featuring deficiencies of GH, LH, FSH, PRL, and TSH, with later onset of ACTH deficiency. She also had a hypoplastic anterior pituitary, respiratory distress, hearing impairment, and limited neck rotation. The LHX3 gene was sequenced and the biochemical properties of the predicted altered proteins were characterized. Results: A novel homozygous mutation predicted to change amino acid 194 from threonine to arginine (T194R) was detected in both patients. This amino acid is conserved in the DNA-binding homeodomain. Computer modeling predicted that the T194R change would alter the homeodomain structure. The T194R protein did not bind tested LHX3 DNA recognition sites and did not activate the α-glycoprotein and PRL target genes. Conclusion: The T194R mutation affects a critical residue in the LHX3 protein. This study extends our understanding of the phenotypic features, molecular mechanism, and developmental course associated with mutations in the LHX3 gene.

A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck—a case report and review of the literature

The LHX3 LIM-homeodomain transcription factor gene is required for normal pituitary and motoneuron development. LHX3 mutations are associated with growth hormone, prolactin, gonadotropin, and TSH deficiency; abnormal pituitary morphology; and may be accompanied with limited neck rotation and sensorineural hearing loss. We report on a boy, who presented with hypoglycemia in the newborn period. He is the second child of healthy unrelated parents. Short neck, growth hormone deficiency, and central hypothyroidism were diagnosed at a general pediatric hospital. Growth hormone and levothyroxine treatment were started, and blood sugar normalized with this treatment. On cerebral MRI, the anterior pituitary gland was hypoplastic. Sensorineural hearing loss was diagnosed by auditory testing. During follow-up, six repeatedly low morning cortisol levels (<1μg/dl) and low ACTH levels (<10pg/ml) were documented, so ACTH deficiency had developed over time and therefore hydrocortisone replacement was started at 1.5years of age. Mutation analysis of the LHX3 gene revealed a homozygous stop mutation in exon 2: c.229C>T (CGA > TGA), Arg77stop (R77X). A complete loss of function is assumed with this homozygous stop mutation. We report a novel LHX3 mutation, which is associated with combined pituitary hormone deficiency including ACTH deficiency, short neck, and sensorineural hearing loss. All patients with LHX3 defects should undergo longitudinal screening for ACTH deficiency, since corticotrope function may decline over time. All patients should have auditory testing to allow for regular speech development.

Congenital pituitary hormone deficiencies: role of LHX3/LHX4 genes

LHX3 and LHX4 are LIM domain transcription factors involved in the early steps of pituitary organogenesis. They are necessary for the proper differentiation of Rathke’s pouch that gives rise to the anterior pituitary lobe. Mutations of these transcription factors are involved in congenital hypopituitarism: to date, nine mutations of LHX3 have been reported, responsible for variable pituitary hormone deficiencies and extrapituitary manifestations, including limited neck rotation. By contrast, only five LHX4 mutations have been reported, responsible for variable hormone deficiencies, and pituitary/intracranial abnormalities. Future investigations will aim to better understand human pituitary organogenesis and to shed light on the interspecies differences in the roles of these transcription factors.

Four Novel Mutations of the LHX3 Gene Cause Combined Pituitary Hormone Deficiencies with or without Limited Neck Rotation

The Lhx3 LIM-homeodomain transcription factor gene is required for development of the pituitary and motoneurons in mice. Human LHX3 gene mutations have been reported in five subjects with a phenotype consisting of GH, prolactin, TSH, LH, and FSH deficiency; abnormal pituitary morphology; and limited neck rotation. The objective of the study was to determine the frequency and nature of LHX3 mutations in patients with isolated GH deficiency or combined pituitary hormone deficiency (CPHD) and characterize the molecular consequences of mutations. The LHX3 sequence was determined. The biochemical properties of aberrant LHX3 proteins resulting from observed mutations were characterized using reporter gene and DNA binding experiments. The study included 366 patients with isolated GH deficiency or CPHD. In seven patients with CPHD from four consanguineous pedigrees, four novel, recessive mutations were identified: a deletion of the entire gene (del/del), mutations causing truncated proteins (E173ter, W224ter), and a mutation causing a substitution in the homeodomain (A210V). The mutations were associated with diminished DNA binding and pituitary gene activation, consistent with observed hormone deficiencies. Whereas subjects with del/del, E173ter, and A210V mutations had limited neck rotation, patients with the W224ter mutation did not. LHX3 mutations are a rare cause of CPHD involving deficiencies for GH, prolactin, TSH, and LH/FSH in all patients. Whereas most patients have a severe hormone deficiency manifesting after birth, milder forms can be observed, and limited neck rotation is not a universal feature of patients with LHX3 mutations. This study extends the known molecular defects and range of phenotypes found in LHX3-associated diseases.

Development of a test battery to identify older drivers at risk for self-reported adverse driving events.

The purposes of this study were (1) to develop a battery of tests that assessed a wide range of functional abilities relevant to driving yet could be performed in a clinician's office and (2) to determine which of these tests were most closely associated with self-reported adverse driving events. A cohort study. An urban community. Participants were drawn from the Project Safety cohort, a probability sample of noninstitutionalized older persons in New Haven, Connecticut, initiated in 1989. The current study included surviving, active drivers in the cohort (N=125). The test battery assessed visual, cognitive, and physical abilities potentially relevant to driving, and was administered in participants' homes by trained interviewers between October 1994 and July 1995. Outcome measures included the self-report of a crash, moving violation, or being stopped by police in any Project Safety interview since the inception of the cohort. Analyses compared performance on the elements of the test battery with participants' histories of adverse driving events. Of the 125 drivers, 50 (40%) had reported an adverse event in a mean period of 5.76 (+/-.25) years before the current interview. The elements of the test battery independently associated with a history of events, adjusting for driving frequency, included near visual acuity worse than 20/40 (adjusted odds ratio 11.90), limited neck rotation (OR 6.10), and poor performance on a test of visual attention, the number cancellation task (OR 3.00). The resulting regression equation yielded a sensitivity of 80%, a specificity of 55%, and an area under the curve of .75 by receiver operating characteristic analysis. These findings suggest it may be possible to identify individuals potentially at risk for self-reported adverse driving events using simple tests of functional ability. If validated, such an approach could be used to identify individuals who need a more detailed assessment of functional abilities to determine the severity and etiology of impairments, and their effect on driving performance, as well as possible interventions to correct or compensate for the impairments.