A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies. ... MAC may also occur as part of various syndromes, and thus examination by specialists for the presence of systemic features (e.g. associated neurological or pituitary defects) is recommended.
Clinical Features Capella et al. (1963) reported a family in which 12 persons in 4 generations had microphthalmia and congenital cataract; 3 affected individuals also had mental retardation. No instance of male-to-male transmission was noted, but the ratio of affected to unaffected was 1:1, consistent with autosomal dominant transmission. Zeiter (1963) described a family with bilateral microphthalmia, congenital cataract, and nystagmus in 7 members over 3 generations. Of the 4 affected family members in the youngest generation, 2 were mentally retarded and 1 of the latter also had congenital heart disease with presumed interventricular septal defect and patent ductus arteriosus as well as hydrocephalus and brain atrophy on ventriculogram. Temtamy and Shalash (1974) reported a 3-year-old Egyptian boy, born of first-cousin parents, with bilateral microphthalmia, cataracts, and nystagmus.
Very rarely, gonadotropin hypersecretion can stimulate the gonads: macro-orchidism has been reported in males and an ovarian hyperstimulation syndrome in premenopausal women with FSH (Follicle Stimulating Hormone)-secreting tumors. ... NFPA may also be part of multiple endocrine neoplasia syndrome such as MEN1 (gene MEN1 , 11q13).
A number sign (#) is used with this entry because of evidence that nocturnal frontal lobe epilepsy-1 (ENFL1) is caused by heterozygous mutation in the gene encoding the neuronal nicotinic acetylcholine receptor (nAChR) alpha-4 subunit (CHRNA4; 118504) on chromosome 20q13. Description Autosomal dominant nocturnal frontal lobe epilepsy (ENFL, ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life (Scheffer et al. (1994, 1995)).
A number sign (#) is used with this entry because of evidence that nocturnal frontal lobe epilepsy-3 (ENFL3) is caused by heterozygous mutation in the gene encoding the beta-2 nicotinic acetylcholine receptor (nAChR) subunit (CHRNB2; 118507) on chromosome 1q21. Clinical Features For a general phenotypic description of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE, ENFL), see 600513. Clustered attacks of epileptic episodes originating from the frontal lobe during sleep represent the main manifestation of ADNFLE. Mapping Gambardella et al. (2000) reported a large Italian family with ADNFLE. Eight members were affected and 5 were asymptomatic, suggesting incomplete penetrance of the disorder.
Description Nocturnal frontal lobe epilepsy-2 (ENFL2) is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep.
A number sign (#) is used with this entry because nocturnal frontal lobe epilepsy-4 (ENFL4) is caused by heterozygous mutation in the gene encoding the neuronal nicotinic cholinergic receptor alpha-2 subunit (CHRNA2; 118502) on chromosome 8p21. Description Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures (summary by Aridon et al., 2006). Some patients with CHRNA2 mutations may have a slightly different phenotype that is more consistent with a clinical diagnosis of benign familial infantile seizures (BFIS6) (Trivisano et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of nocturnal frontal lobe epilepsy, see ENFL1 (600513). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764).
Autosomal dominant nocturnal frontal lobe epilepsy Other names ADNFLE Specialty Neurology Autosomal dominant nocturnal frontal lobe epilepsy is an epileptic disorder that causes frequent violent seizures during sleep. These seizures often involve complex motor movements, such as hand clenching, arm raising/lowering, and knee bending. Vocalizations such as shouting, moaning, or crying are also common. ADNFLE is often misdiagnosed as nightmares . Attacks often occur in clusters and typically first manifest in childhood. There are four known loci for ADNFLE, three with known causative genes.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy . People with ADNFLE have seizures that usually occur at night during sleep. Some people with ADNFLE also have seizures during the day. These seizures can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep, to dramatic muscle spasms and movements. The onset of ADNFLE ranges from infancy to adulthood, but most cases begin in childhood. Episodes tend to become milder and less frequent with age. It is diagnosed based on symptoms and the results of tests such as an EEG.
Parasomnias (disorders in which undesirable physical and mental phenomena occur mainly or exclusively during sleep [American Academy of Sleep Medicine 2001]) including the following may be considered: Pavor nocturnus (night terrors), a common childhood syndrome, is characterized by attacks of extreme fear and distress that occur one or two hours after the child falls asleep. ... Brief stationary movements may be followed by myoclonic or repetitive clonic jerks that coincide with the periodic K-complexes of light sleep. Restless legs syndrome is often accompanied by segmental motor activity and may be a spinal cord-mediated disorder.
Description Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep.
Differential diagnosis Differential diagnosis of foodborne botulism includes myasthenia gravis, Guillain-Barré and Miller-Fisher syndromes, Lambert-Eaton syndrome and, in addition, intestinal and wound botulism (see these terms).
Differential diagnosis Differential diagnoses include skeletal dysplasias and dysostoses with asymmetrical involvement of the lower limbs such as femoral-facial syndrome. Antenatal diagnosis Prenatal diagnosis of fibular hemimelia has been reported. ... The functional result mostly depends on the status or quality of reconstruction of the knee and foot and ankle. In case of syndromic presentation, prognosis depends on the nature of the associated anomalies.
Differential diagnosis Differential diagnosis includes osteogenesis imperfecta, Ehlers-Danlos syndrome, arthrochalasia type, mucopolysaccharidosis type 2 and Hurler syndrome (see these terms), non-accidental childhood injury, hypervitaminosis A, prostaglandin E1 exposure, bone malignancies, osteomyelitis and parotitis.
Caffey disease is a bone disorder that most often occurs in babies. It is characterized by the excessive formation of new bone (hyperostosis) in the jaw, shoulder blades, collarbones, and shafts of long bones in the arms and legs. Affected bones may double or triple in width. In some cases, two bones that are next to each other may become fused. Caffey disease is caused by a mutation in the COL1A1 gene. It is inherited in an autosomal dominant pattern, but not all people who inherit the mutation develop signs and symptoms. This is due to incomplete penetrance .
Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs. Affected bones may double or triple in width, which can be seen by x-ray imaging. In some cases two bones that are next to each other, such as two ribs or the pairs of long bones in the forearms (radius and ulna) or lower legs (tibia and fibula) become fused together.
None of the affected individuals or obligate carriers in any of the families had clinical signs of the major type I collagen disorder, osteogenesis imperfecta (see 166200); however, in 2 of the 3 families, individuals carrying the mutation did have joint hyperlaxity, hyperextensible skin, and inguinal hernias, features seen in Ehlers-Danlos syndrome (see 130000), some forms of which are caused by mutations in COL1A1.
Summary Clinical characteristics. Caffey disease is characterized by massive subperiosteal new bone formation (usually involving the diaphyses of the long bones as well as the ribs, mandible, scapulae, and clavicles) typically associated with fever, joint swelling, and pain in children, with onset between birth and five months and spontaneous resolution by age two years. Episodes of recurrence of the manifestations of Caffey disease have been reported multiple times in individuals with the classic infantile presentation. Limited follow-up information suggests that adults who had Caffey disease in childhood may manifest joint laxity, skin hyperextensibility, hernias, short stature, and an increased risk for bone fractures and/or deformities. Diagnosis/testing. The diagnosis of Caffey disease is established in a proband with typical clinical and radiographic findings and a c.3040C>T heterozygous pathogenic variant in COL1A1 identified by molecular genetic testing. Management. Treatment of manifestations: Anti-inflammatory agents, antipyretics, and analgesics can be used in the short term to decrease swelling and fever and to relieve pain.
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. ... Differential diagnosis BAFME must be differentiated from epilepsy syndromes with prominent myoclonus features.
For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068). Clinical Features Depienne et al. (2010) reported a large French family in which 16 individuals had a form of myoclonic epilepsy. Most patients had onset as adults in their twenties or thirties, although 1 boy had onset of cortical myoclonus at age 10. Five patients presented with cortical myoclonus, 5 with seizures, and 6 with both at the same time. Two had only cortical myoclonus without seizures. Of the 14 with seizures, 11 had generalized tonic-clonic seizures and 3 had only focal seizures, characterized by visual hallucinations or transient loss of consciousness.
A number sign (#) is used with this entry because of evidence that familial adult myoclonic epilepsy-1 (FAME1) is caused by a heterozygous 5-bp repeat expansion (TTTCA(n)) in the SAMD12 gene (618073) on chromosome 8q24. Description Familial cortical myoclonic tremor associated with epilepsy (FCMTE) is characterized by an autosomal dominant inheritance, adult-onset cortical myoclonus, and seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by Depienne et al., 2010). FAME1 tends to occur in patients of Japanese or Han Chinese descent (summary by Cen et al., 2018). Genetic Heterogeneity of Familial Adult Myoclonic Epilepsy See also FAME2 (607876), caused by mutation in the ADRA2B gene (104260) on chromosome 2q11; FAME3 (613608), which maps to chromosome 5p15; FAME4 (615127), which maps to chromosome 3q26.32-q28; FAME5 (615400), caused by mutation in the CNTN2 gene (190197) on chromosome 1q32; FAME6 (618074), caused by mutation in the TNRC6A gene (610739) on chromosome 16p12; and FAME7 (618075), caused by mutation in the RAPGEF2 gene (609530) on chromosome 4.
Diagnosis [ edit ] The first noticeable signs of the syndrome usually do not appear until after the first twelve months of the child’s life. ... Although non-prescription glasses should be worn for eye protection, this syndrome does not usually prevent the individual from living a normal life, driving cars, playing sports, reading, etc.
Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).
Coloboma of the optic nerve may occur sporadically , may be due to a genetic mutation and be inherited, or may occur as a feature of an underlying syndrome or other genetic condition. There is no treatment to correct an optic nerve coloboma, but low vision aids may be helpful for some people.
Such challenges may include career changes, beginning new stages in life, moving to new locations, interviews or auditions, and undertaking new interpersonal commitments such as marriage. [8] Other causes include Fear of the sense of responsibility that often attends recognizing one's own greatness, talents, potentials Fear that an extraordinary life would be too much out of the ordinary, and hence not acceptable to others Fear of seeming arrogant, self-centered, etc. [7] Difficulty envisioning oneself as a prominent or authoritative figure [9] See also [ edit ] Impostor syndrome Metamotivation Setting up to fail Tall poppy syndrome References [ edit ] ^ a b c d e Abraham Maslow.
It is imperative that the correct diagnosis is made the misdiagnosis of a neurofibroma may lead to unnecessary further investigation into associated systemic syndromes such as neurofibromatosis type 1 or multiple endocrine neoplasia syndrome . [3] [4] The differential diagnosis for PEN includes a neurofibroma , basal cell carcinoma , melanocytic nevus , epidermoid cyst and a skin appendage . [3] [2] Treatment [ edit ] The only definitive treatment of PEN is surgical excision .
Thalamocortical Dysrhythmia (TCD) is a theoretical framework in which neuroscientists try to explain the positive and negative symptoms induced by neuropsychiatric disorders like Parkinson's Disease , neurogenic pain , tinnitus , visual snow syndrome , schizophrenia , obsessive–compulsive disorder , depressive disorder and epilepsy . ... "Thalamocortical dysrhythmia: A neurological and neuropsychiatric syndrome characterized by magnetoencephalography" .
In Japan it is called Izumi fever . [1] Contents 1 Signs and symptoms 2 Cause 3 Pathophysiology 4 Diagnosis 4.1 Differential diagnosis 5 History 6 References Signs and symptoms [ edit ] These include [2] [3] red skin rash usually of the face, elbows, and knees skin desquamation exanthema red tongue toxic shock syndrome Other features include mesenteric lymphadenitis and arthritis . ... References [ edit ] ^ Sato K, Ouchi K, Taki M (1983) Yersinia pseudotuberculosis infection in children, resembling Izumi fever and Kawasaki syndrome . Pediatr Infect Dis 2: 123–126 ^ Zalmover IIu, Znamenskiĭ VA, Ignatovich VO, Vishniakov AK, Serov GD (1969) Clinical aspects of Far Eastern scarlatina-like fever.
Many people with this disorder experience carpal tunnel syndrome, which occurs when a nerve in the wrist (the median nerve) is involved. Carpal tunnel syndrome is characterized by numbness, tingling, and weakness in the hand and fingers.
Symptoms may include numbness, tingling, and/or loss of muscle function ( palsy ), pain in the limbs (especially the hands), carpal tunnel syndrome (impairing the ability to use the fingers, hands, and wrists), and foot drop (making it hard or impossible to walk, climb stairs, or drive).
Hereditary neuropathy with liability to pressure palsy Other names Tomaculous neuropathy Nerve with myelin sheath Specialty Neurology Symptoms Fibromyalgia [1] Causes Genetic (autosomal dominant mutation in the PMP22 gene) [2] Diagnostic method Family history, Electrophysiologic testing [3] Treatment Occupational therapist, ankle/wrist supports [4] Hereditary neuropathy with liability to pressure palsy ( HNPP ) is a peripheral neuropathy , a condition that affects the nerves . [1] Pressure on the nerves can cause tingling sensations, numbness , pain, weakness, muscle atrophy and even paralysis of the affected area. In normal individuals, these symptoms disappear quickly, but in sufferers of HNPP even a short period of pressure can cause the symptoms to occur. Palsies can last from minutes or days to weeks or even months. [1] [2] HNPP is caused by a mutation in the gene PMP22 , which makes peripheral myelin protein 22. This protein has a role in the maintenance of the myelin sheath that insulates nerves, resulting in insufficient conductivity in the nerves. HNPP is part of the group of hereditary motor and sensory neuropathy (HMSN) disorders and is linked to Charcot–Marie–Tooth disease (CMT). [5] Contents 1 Signs and symptoms 2 Causes 2.1 Molecular biology/genetics 3 Diagnosis 4 Treatment 5 Epidemiology 6 History 7 See also 8 References 9 Further reading 10 External links Signs and symptoms [ edit ] Symptoms and symptom onset vary; some individuals are diagnosed in childhood, others in adulthood, some report minor problems, whilst others experience severe discomfort and disability.
A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people. Epidemiology Hereditary neuropathy with liability to pressure palsies (HNPP) actual prevalence is unknown due to under-diagnosis but estimates range between 1/50,000 -1/20,000 worldwide. In Finland, the prevalence is reported to be 1/6250. Clinical description Disease onset usually occurs in the 2nd to 3rd decade of life, but may present in childhood. Some patients are asymptomatic and never diagnosed. The most common presenting symptom is the sudden onset of focal sensory loss and muscle weakness in the distribution of a single nerve. In many cases, these acute focal symptoms are triggered by mechanical stresses to the nerve, such as compression, repetitive movement or stretching of the affected limbs.
The most common sites of focal neuropathy (in decreasing order of frequency) are the following: Peroneal nerve at the fibular head causing foot drop Ulnar nerve at the elbow, causing hypothenar and interossei muscle weakness and atrophy with sensory loss over the lateral aspect of the hand Median nerve at the wrist causing carpal tunnel syndrome with thenar muscle weakness and atrophy and sensory loss over the thumb and index finger [Del Colle et al 2003] Brachial plexus and radial nerve, causing transient sensory symptoms and hand pain [Marriott et al 2002] Involvement of other less commonly affected nerves includes the following: Motor brachial plexopathy [Kim 2014] Hypoglossal nerve paralysis affecting the tongue, including after carotid endarterectomy [Corwin & Girardet 2003, Winter & Juel 2003] Scapuloperoneal syndrome [Barroso et al 2006] Sciatic neuropathy [Topakian et al 2014] Laryngeal and phrenic nerve involvement [Cortese et al 2016] Facial nerve involvement [Poloni et al 1998] Pain is increasingly recognized as a common manifestation. ... Thus, HNPP is part of the broad differential diagnosis of both compression neuropathies and general peripheral neuropathies, including the hereditary neuropathies and Charcot-Marie-Tooth (CMT) syndrome (see CMT Overview). Acquired Disorders Compression neuropathies. ... The most common are carpal tunnel syndrome with compression of the median nerve at the wrist,* peroneal pressure palsy with compression of the superficial peroneal nerve at the fibular head, and ulnar nerve compression at the elbow. * HNPP is not a common cause of isolated idiopathic carpal tunnel syndrome [Stockton et al 2001, Sander et al 2005]. ... Multifocal neuropathies such as multifocal acquired demyelinating sensory and motor (MADSAM) neuropathy or Lewis and Sumner syndrome should be considered in the differential diagnosis, as these entities are treatable [Shah et al 2015].
There are conditions that mimic the symptoms of carpal tunnel syndrome (CTS; 115430) or predispose people to develop it. ... This was thought to be the first case report of moving toes syndrome and segmental myoclonus in association with HNPP. ... The mother experienced numbness in digits I through III of her left hand and was found to have prolonged motor and sensory distal latencies and moderate slowing of the NCVs of the left median nerve compatible with carpal tunnel syndrome. Both mother and son were shown to have the same deletion in the 17p11.2 region.
Differential diagnosis Differential diagnoses includes infantile epilepsy syndrome, benign nocturnal alternating hemiplegia of childhood, as well as allelic disorders with overlapping clinical features, such as rapid-onset dystonia-parkinsonism, familial or sporadic hemiplegic migraine and Moyamoya disease. Neurological, metabolic and vascular syndromes with similar clinical features should also be excluded.
Description Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. ... The disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1; 141500) and GLUT1 deficiency syndrome (606777) (Rotstein et al., 2009).
Heterozygous mutation in the ATP1A3 gene can also cause 2 other neurologic disorders that share some clinical features: dystonia-12 (DYT12; 128235) and CAPOS syndrome (601338). Description Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia.
Alternating hemiplegia of childhood (AHC) is a neurological disorder that usually affects children before 18 months of age. Classic AHC causes recurrent episodes of paralysis ( hemiplegia ) that involve one or both sides of the body, multiple limbs, or a single limb. The paralysis may affect different parts of the body at different times and may be brief or last for several days. A characteristic feature of AHC is that symptoms disappear during sleep and return upon waking. Many affected children display some degree of developmental delay, abnormal eye (oculomotor) movements, uncontrolled limb movements (including ataxia, dystonia, and choreoathetosis ) and seizures.
Differential diagnosis Differential diagnoses include other disorders of the peripheral nervous system including myopathies or muscular dystrophies (dystrophinopathies, limb girdle muscular dystrophy, metabolic myopathies, or inflammatory myopathies), inflammatory neuropathies (Guillain-Barré syndrome), neuromuscular junction disorders (myasthenia gravis or congenital myasthenic syndromes), and other motor neuron disorders (non-5q form of SMA or late onset hexosaminidase A deficiency).
Pearn et al. (1978) reported a spinal muscular atrophy syndrome characterized by adolescent onset, gross hypertrophy of the calves, and a slowly progressive clinical course.