• Papeln und Hyperkeratosen der Haut und Schleimhäute
• Multiple gastrointestinale Polypen und Adenome
• Veränderungen im Bereich der Schild- und Brustdrüse
• Erhöhtes Risiko an einem kolorektalen Karzinom zu erkranken
• Autosomal-dominant vererbt
Hypertrophe pulmonale Osteoarthropathie
• Meist Folge der chronischen Hypoxie (→ bei allen chronischen Lungenerkrankungen möglich )
• Schwellung und Schmerzen von Diaphysen der Extremitäten
• Uhrglasnägel und Trommelschlegelfinger
Bei z.n. bilateraler Temporallappenschädigung
- Affektion des limbischen Systems
- Starke orale Tendenzen (alles wird in den Mund genommen)
- Angstverlust
- Hypersexualität
o Intermittierende hohe Fieberschübe
o Flüchtiges kleinfleckiges, makulopapulöses Exanthem
Befällt proximale Extremitäten und Rumpf
Auftreten häufig nur während des abendlichen Fieberschubs
o Weitere Symptome: Symmetrische Polyarthritis, Splenomegalie, Polyserositis (Pleura und Perikard)
• Labor
o Rheumafaktoren, Antinukleäre Antikörper und Anti-CCP-Antikörper: alle negativ!
Ferritin↑↑, BSG↑, CRP↑, Leukozytose
Zahlreiche weitere Symptome möglich
o Vaskulitis, die insbesondere durch Hautulzera der unteren Extremität symptomatisch wird
o Hepatomegalie
o Pleuritis, Perikarditis
o Infektionen aufgrund eines reduzierten Immunstatus
• Intelligenzminderung
• Körpergröße zumeist im oberen Normbereich
• Anomalien der Körperstrukturen typisch (z.B. Makrozephalus, längliches Gesicht und große Ohren)
• deutlich vergrößerte Hoden
Hyperaktivität und autistisches Verhalten
Das Kearns-Sayre-Syndrom gehört zu den mitochondrialen Myopathien, die maternal über die Mitochondrien vererbt werden. Es geht mit Ophthalmoplegie, Retinopathia pigmentosa und Störungen des Herzreizleitungssystems einher.
- deutlich erhöhtes Risiko, in mittleren Jahren (45 Jahre) an einem kolorektalen Karzinom zu erkranken.
- erhöhte Wahrscheinlichkeit, an HNPCC assoziierten Karzinomen wie Endometrium-, Ovarial- oder Magenkarzinomen zu erkranken.
• Mangel an 7-Dehydrocholesterol-Reduktase zugrunde, der zu einem Mangel an Cholesterin und einer Akkumulation von 7-Dehydrocholesterol im Plasma
Kleinwuchs, Lidptose, kurzer Nase mit aufgerichteten Nasenlöchern, Syndaktylie Hypospadie
Das Stiff-Person- oder auch Stiff-Man-Syndrom ist eine Autoimmunerkrankung mit Antikörpern gegen die Glutamat-Decarboxylase (in 60-90% der Fälle) oder gegen Amphiphysin.
Ausfall der Formatio reticularis und Einklemmung der Zentren für den visuellen Lichtreflex
- Überstreckung von Rumpf und allen Extremitäten, Arme adduziert und innenrotiert, Finger gebeugt→ sogenannte Dezerebrationshaltung
- Erhöhter Muskeltonus mit gelegentlichem Opisthotonus
- Pupillenreflexe träge oder nicht mehr vorhanden
- Lebhafte Muskeleigenreflexe
- Pathologische Reflexe
- Tachypnoe (Maschinenatmung)
Parese
- M. triceps brachii
- M. pronator teres
- Thenarmuskulatur
Dermatom
- Palmare Finger II - IV (halber Finger II, III ganz und halb von IV)
- Dorsaler, mittlerer Unterarm bis halber Finger II, III und halb von IV
Autosomal-rezessiv vererbte Störung des mukozellulären Transports
Symptomtrias
- Situs inversus
- Bronchiektasen
- Chronische Sinusitis und Nasenpolypen
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- Schmerzen am proximalen Ende der Patellasehne am distalen Pol der Patella
- Häufigste Insertionstendinopathie des Jugendlichen
- ca. 30% beidseitig
- Schmerzen beim Treppensteigen und Bergabgehen sowie bei langer Kniebeugung im Sitzen
Tonuserhöhung der Skelettmuskulatur
- Rücken + Halses
- durch Reize ausgelöst bzw. verschlimmert
- Assoziation mit insulinpflichtigem Diabetes mellitus
Ätiologie
1) spontan
- Antikörper gegen Glutamat-Decarboxylase (Synthese von GABA) - 80%
2) paraneoplastisch im Rahmen eines Bronchial- oder Mamma-Ca
- Antikörper gegen Amphiphysin
Ätiologie
- extremer Belastung (Tennis) des Arms
- Fremdkörper (ZVK)
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Therapie
- Schaffung von klaren und bleibenden Strukturen
- Verhaltenstherapie mit Kompetenztraining
- Behandlung der Komorbiditäten: z.B. Methylphenidat bei ADHS
Prognose
- Pubertät: ungestümes, unsensibles Verhalten im Verfolgen der eigenen sexuellen Interessen
- Erwachsenenalter: Charakterzüge und Beeinträchtigungen der sozialen Interaktion persistieren
Crigler-Najjar-Syndrom Typ II (Arias-Syndrom)
- autosomal-dominant vererbte Erkrankung mit Aktivitätsminderung der UDP-Glucuronyltransferase.
- Erstmanifestation eines Ikterus innerhalb des ersten Lebensjahres.
Das VIPom (Verner-Morrison-Syndrom) ist ein seltener maligner neuroendokriner Pankreastumor. Erhöhte vasoaktive intestinale Polypeptid(VIP)-Werte sind diagnoseweisend.
- Störung des Kupferstoffwechsels
- Hypothermien
- Muskelhypotonie
- Krampfanfällen
Typisches Aussehen
- Pausbacken
- spröde, helle und in sich gedrehte Haare
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- anfänglich scheinbar normale Entwicklung
- später Verlust der Intelligenz und kognitiver Fähigkeiten
- - Sprache
- - Lokomotion und Gebrauchsfähigkeiten der Hände
Degeneration der Basalganglien und des Hirnstamms
- vertikale Blickparese nach unten
- Stürze bei posturaler Instabilität
- Demenz
- Rigor und Akinese
- Kein Tremor
- Dysästhesien, Missempfindungen, Kribbeln, Schmerzen in den Extremitäten
- Bewegungsdrang
- Rückbildung bei Bewegung
- Periodische Rhythmik mit Verstärkung der Symptomatik abends und nachts
- Meist unauffälliger neurologischer Untersuchungsbefund
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- Tetraplegie und Parese fast aller Hirnnerven
- Beatmungspflichtig
- Augenmuskeln für vertikale Bewegungen und Lidschluss nicht betroffen!
- Vigilanz nicht eingeschränkt
Ätiologie
- Traumatisch
- Zentrale pontine Myelinolyse
- Thrombotischer Verschluss der A. basilaris
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Rückenmark aufgrund einer angeborenen Störung oder postoperativ durch Narbenbildung im kaudalen Sakralkanal verankert.
- Der Conus medullaris wird bei Zug überdehnt
- Blasenstörung
- Fußdeformität
- Muskelatrophien an den Beinen kommen
- positive Pyramidenbahnzeichen
- Reflexausfälle
- Freudlosigkeit
- Mangelnde Reagibilität
- Früherwachen
- Morgentief
- Psychomotorische Hemmung oder Agitiertheit
- Appetitverlust
- Gewichtsverlust: >5% des Körpergewichts im letzten Monat
- Libidoverlust
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Axiale Einklemmung des Zwischenhirns in Richtung Tentoriumschlitz
- Beuge- und Streck-Synergismen mit Beugung von Armen und Streckung der Beine (sog. Dekortikationshaltung)
- Zunehmende Vigilanzstörung
- Erhöhter Muskeltonus und Nackensteife (Spastik)
- Pupillenreflex erhalten
- Lebhafte Muskeleigenreflexe
- Pathologische Reflexe
- Cheyne-Stokes-Atmung
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- Koma
- Muskeltonus herabgesetzt
- Pupillen lichtstarr und entrundet
- Ausfall des okulozephalen Reflexes (=Puppenkopfphänomen negativ)
- Aufall des vestibulo-okulären Reflexes (Wegfall von tonischen Augenbewegung bei Wasserspülung des äußeren Gehörgangs)
- Kornealreflex erschöpflich oder ausgefallen
Keilbeinflügel-Meningeom = Fissura orbitalis superior Okklusion
- Nicht-pulsierender Exophthalmus
Paresen der Hirnnerven 3-6
- N. oculomotorius (N. III)
- N. trochlearis (N. IV)
- N. abducens (N. VI)
- N. ophthalmicus = 1. Ast des N. trigeminus (N.V)
Parese der Nerven 3-6 im Sinus cavernosus
- N. oculomotorius (N. III)
- N. trochlearis (N. IV)
- N. abducens (N. VI)
- N. ophthalmicus (V1) + Nervus maxillaris (V2) aus dem N. trigeminus (N. V)
Läsion der gesamten afferenten und efferenten Leitungsbahnen des Rückenmarks
- Durch Trauma 6-8 Wochen nach spinalem Schock
- Allmählich bei spinalen Tumoren, Multiple Sklerose oder Myelitis
- Analgesie und Anästhesie
- Spastische Parese
- Hyperreflexie
- Analreflexe bleiben erloschen
- Pathologische Reflexe: Z.B. Babinski-Reflex
- Unerschöpfliche Kloni: Z.B. Fußklonus
Das Dandy-Walker-Syndrom ist eine Fehlbildung des kraniozervikalen Überganges, bei der der Kleinhirnwurm (Vermis) nur gering oder fast gar nicht ausgeprägt und dafür der vierte Ventrikel stark erweitert ist. Die Patienten fallen bereits im Kleinkindalter durch eine verzögerte motorische und kognitive Entwicklung sowie durch Ataxie auf.
CADASIL ist ein Akronym für "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy". Es geht einher mit gehäuften Schlaganfällen durch Mikroangiopathie (nicht Hypertonie-bedingt), allerdings charakteristischerweise mit migräneartigen Kopfschmerzen (und Aura). Ursächlich ist eine Mutation im NOTCH3-Gen.
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Beim PCO-Syndrom (Polyzystisches Ovarialsyndrom) liegt eine metabolische Störung vor, bei der es aufgrund zu hoher Androgenspiegel, zu Zyklusunregelmäßigkeiten mit Oligo-/Anovulation und einer Virilisierung kommt. Häufig besteht, wie bei der Patientin, eine Assoziation mit Adipositas und einem metabolischen Syndrom. Die namensgebenden "polyzystischen Ovarien" finden sich allerdings nicht bei allen Patientinnen und sind deshalb kein ausschlaggebendes Kriterium.
- Miosis (Ausfall des M. dilatator pupillae)
- Ptosis (Ausfall des M. tarsalis superior)
- Enophthalmus (Ausfall des M. orbitalis, Höherstand des Unterlids)
- Anhidrose (verminderte Schweißsekretion) im Gesicht und am Arm je nach Schädigungsort möglich
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Ein Ovarialfibrom (in 90% der Fälle einseitig) kann mit Aszites und Pleuraerguss einhergehen und wird dann Meigs-Syndrom genannt. Die Ursache ist nicht bekannt.
Antikörper gegen präsynaptische Kalziumkanäle
- Häufig paraneoplastische Erscheinung bei kleinzelligem Bronchialkarzinom (66%)
- rumpfnahe und beinbetonte Muskelschwäche
- Probleme beim Treppensteigen
- vegetative Symptome (Mundtrockenheit, Obstipation, orthostatische Dysregulation)
- Bei Anstrengung nimmt Muskelkraft wieder zu
EMG
- Initiales Dekrement
- Nachfolgende Zunahme der Aktionspotentialamplituden